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The Finnish disease heritage III: the individual diseases


This article is the third and last in a series entitled The Finnish Disease Heritage I–III. All the 36 rare hereditary diseases belonging to this entity are described for clinical and molecular genetic purposes, based on the Finnish experience gathered over a period of half a century. In addition, five other diseases are mentioned. They may be included in the list of the "Finnish diseases" after adequate complementary studies.

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computed tomography










Helsinki University Central Hospital


minimal brain dysfunction


Mendelian Inheritance of Man (McKusick)


magnetic resonance imaging


Oulu University Hospital


somatosensory evoked potential


single photon emission computed tomography


Turku University Hospital


visual evoked potential


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References for APECED

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References for cartilage-hair hypoplasia

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References for choroideremia

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References for Cohen syndrome

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References for congenital chloride diarrhea

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References for congenital lactase deficiency

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References for congenital nephrosis of the Finnish type

  1. Beltcheva O, Martin P, Lenkkeri U, Tryggvason K (2001) Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. Hum Mutat 17:368–373

  2. Gautier P, Miville D (1942) Syndrome de néphrose lipóidique congénitale. Rev Med Suisse Romande 62:740–747

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  5. Holmberg C, Antikainen M, Rönnholm K, Ala-Houhala M, Jalanko H (1995) Management of the congenital nephrotic syndrome of the Finnish type. Pediatr Nephrol 9:87–93

  6. Holmberg C, Jalanko H, Tryggvason K, Rapola J (1999) Congenital nephrotic syndrome. In: Barratt TM, Avner ET, Harmon WE (eds) Pediatric nephrology, 4th edn. Lippincott Williams & Wilkins, Baltimore, pp 765–777

  7. Huttunen NP (1976) Congenital nephrotic syndrome of Finnish type. A study of 75 cases. Arch Dis Childh 51:344–348

  8. Jalanko H, Kääriäinen H, Norio R (2002) Nephrotic disorders. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR (eds) Emery & Rimoin's Principles and practice of medical genetics, 4th edn. Churchill Livingstone, London New York, pp 1708–1719

  9. Kestilä M, Männikkö M, Holmberg C, Gyapay G, Weissenbach J, Savolainen ER, Peltonen L, Tryggvason K (1994) Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19. Am J Hum Genet 54:757–764

  10. Kestilä M, Lenkkeri U, Männikkö M, Lamerdin J, McCready P, Putaala H, Ruotsalainen V, Morita T, Nissinen M, Herva R, Kashtan CE, Peltonen L, Holmberg C, Olsen A, Tryggvason K (1998) Positionally cloned gene for a novel glomerular protein — nephrin — is mutated in congenital nephrotic syndrome. Molec Cell 1:575–582

  11. Laine J, Jalanko H, Holthöfer H, Krogerus L, Rapola J, von Willebrand E, Lautenschlager I, Salmela K, Holmberg C (1993) Post-transplantational nephrosis in congenital nephrotic syndrome of Finnish type. Kidney Int 44:867–874

  12. Lenkkeri U, Männikkö M, McCready P, Lamerdin J, Gribouval O, Niaudet P, Antignac C, Kashtan CE, Holmberg C, Olsen A, Kestilä M, Tryggvason K (1999) Structure of the gene for congenital nephrotic syndrome of the Finnish type (NPHS1) and characterization of mutations. Am J Hum Genet 64:51–61

  13. Liu L, Done SC, Knoshnoodi J, Bertorello A, Wartiovaara J, Berggren PO, Tryggvason K (2001) Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanism of congenital nephrotic syndrome. Hum Mol Genet 10:2637–2644

  14. Männikkö M, Kestilä M, Holmberg C, Norio R, Ryynänen M, Olsen A, Peltonen L, Tryggvason K (1995) Fine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1. Am J Hum Genet 57:1377–1383

  15. Norio R (1966) Heredity in the congenital nephrotic syndrome; a genetic study of 57 Finnish families with a review of reported cases. Ann Paediatr Fenn Suppl 27

  16. Patrakka J, Kestilä M, Wartiovaara J, Ruotsalainen V, Tissari P, Lenkkeri U, Männnikkö M, Visapää I, Holmberg C, Rapola J, Tryggvason K, Jalanko H (2000) Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients. Kidney Int 58:972–980

  17. Patrakka J, Martin P, Salonen R, Ruotsalainen V, Kestilä M, Männikkö M, Ryynänen M, Rapola J, Holmberg C, Tryggvason K, Jalanko H (2002) Proteinuria and prenatal diagnosis of congenital nephrosis in fetal carriers of nephrin gene mutations. Lancet 359:1575–1577

  18. Patrakka J, Ruotsalainen V, Reponen P, Qvist E, Laine J, Holmberg C, Tryggvason K, Jalanko H (2002) Recurrence of nephrotic syndrome in kidney grafts of patients with congenital nephrotic syndrome of the Finnish type: role of nephrin. Transplantation 73:394–403

  19. Rapola J, Huttunen NP, Hallman N (1992) Congenital and infantile nephrotic syndrome. In: Edelmann CM Jr (ed) Pediatric kidney disease, 2nd edn. Little Brown, Boston, pp 1291–1305

  20. Ruotsalainen V, Patrakka J, Tissari P, Hess M, Kestilä M, Holmberg C, Salonen R, Heikinheimo M, Wartiovaara J, Tryggvason K, Jalanko H (2000) Role of nephrin in cell junction formation in human nephrogenesis. Am J Pathol 157:1905–1916

References for cornea plana congenita

  1. Eriksson A, Lehmann W, Forsius H (1973) Congenital cornea plana in Finland. Clin Genet 4:301–310

  2. Forsius H (1957) Cornea plana and embryotoxon corneae posterius. Acta Ophthalmol 35:65

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  8. Tahvanainen E, Forsius H, Karila E, Ranta S, Eerola M, Weissenbach J, Sistonen P, de la Chapelle A (1995) Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis. Genomics 26:290–293

  9. Tahvanainen E, Forsius H, Kolehmainen J, Damsten M, Fellman J, de la Chapelle A (1996) The genetics of cornea plana congenita. J Med Genet 33:116–119

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References for diastrophic dysplasia

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References for FSH-RO

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  3. Aittomäki K, Herva R, Stenman UH, Juntunen K, Ylöstalo P, Hovatta O, de la Chapelle (1996) Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene. J Clin Endocrinol Metabol 81:3722–3726

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  5. Rannikko A, Pakarinen P, Manna P, Beau I, Milrom E, Misrahi M, Aittomäki K, Huhtaniemi I (2002) Functional characterization of the human follicle-stimulating hormone receptor with inactivating Ala189Val mutation. Molec Human Reprod 4:311–317

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References for GRACILE syndrome

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  4. Norio R, Nevanlinna HR, Perheentupa J (1973) Hereditary diseases in Finland; rare flora in rare soil. Ann Clin Res 5:109–141

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  6. Visapää I, Fellman V, Varilo T, Palotie A, Raivio KO, Peltonen L (1998) Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33–37. Am J Hum Genet 63:1396–1403

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References for Herva disease

  1. Herva R, Leisti J, Kirkinen P, Seppänen U (1985) A lethal autosomal recessive syndrome of multiple congenital contractures. Am J Med Genet 20:431–439

  2. Herva R, Conradi NG, Kalimo H, Leisti J, Sourander P (1988) A syndrome of multiple congenital contractures: neuropathological analysis on five fetal cases. Am J Med Genet 29:67–76

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  4. Mäkelä-Bengs P, Järvinen N, Vuopala K, Suomalainen A, Ignatius J, Sipilä M, Herva R, Palotie A, Peltonen L (1998) Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals. Am J Hum Genet 63:506–516

  5. Vuopala K, Herva R (1994) Lethal congenital contracture syndrome—further delineation with genetic aspects. J Med Genet 31:521–527

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References for HOGA

  1. Cutler CW (1895) Drei ungewöhnliche Fälle von Retino-Chorioideal-Degeneration. Arch Augenheilk 30:117

  2. Heinänen K, Näntö-Salonen K, Komu M, Erkintalo M, Alanen A, Heinonen OJ, Pulkki K, Nikoskelainen E. Sipilä I, Simell O (1999) Creatine corrects muscle 31P spectrum in gyrate atrophy with hyperornithinemia. Eur J Clin Invest 29:1060–1065

  3. Jacobsohn E (1888) Ein Fall von Retinitis pigmentosa atypica. Klin Monatsbl Augenheilk 26:202–206

  4. Kaiser-Kupfer MI, Caruso RC, Valle D (2002) Gyrate atrophy of the choroid and retina: further experience with long-term reduction of ornithine levels in children. Arch Ophthalmol 129:146–153

  5. Peltola K, Heinonen OJ, Näntö-Salonen K, Pulkki K, Simell O (2000) Oral lysine feeding in gyrate atrophy with hyperornithinemia — a pilot study. J Inherit Metab Dis 23:305–307

  6. Peltola KE, Näntö-Salonen K, Heinonen OJ, Heinänen K, Jääskeläinen S, Simell O, Nikoskelainen E (2001) Ophthalmological heterogeneity in patients with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferase. Ophthalmology 108:721–729

  7. Simell O, Takki K (1973) Raised plasma-ornithine and gyrate atrophy of the choroid and retina. Lancet I:1031

  8. Sipilä I, Simell O, Rapola J, Sainio K, Tuuteri L (1979) Gyrate atrophy of the choroid and retina with hyperornithinemia: tubular aggregates and type 2 fiber atrophy in muscle. Neurology 29:996–1005

  9. Takki K (1975) Gyrate atrophy of the choroid and retina associated with hyperornithinaemia. Brit J Ophthalmol 58:3–23

  10. Takki K, Simell O (1974) Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia. Brit J Ophthalmol 58:907–916

  11. Valle D, Simell O (2001) The hyperornithinemias. In: Scriver CR, Beaudet AL, Valle D, Sly WS (eds) The metabolic & molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 1857–1895

References for hydrolethalus syndrome

  1. Herva R, Seppänen U (1984) Roentgenologic findings of the hydrolethalus syndrome. Pediatr Radiol 14:41–43

  2. Salonen R, Herva R (1990) Syndrome of the month: hydrolethalus syndrome. J Med Genet 27:756–759

  3. Salonen R, Herva R, Norio R (1981) The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients. Clin Genet 19:321–330

  4. Visapää I, Salonen R, Varilo T, Paavola P, Peltonen L (1999) Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23–25. Am J Hum Genet 65:1086–1095

  5. Ämmälä P, Salonen R (1995) First-trimester diagnosis of hydrolethalus syndrome. Ultrasound Obstet Gynecol 5:60–62

References for INCL

  1. Cho S, Dawson PE, Dawson G (2001) Role of palmitoyl-protein thioesterase in cell death: implications for infantile neuronal ceroid lipofuscinosis. Eur J Paediatr Neurol 5 Suppl A:53–55

  2. Hagberg B, Sourander P, Svennerholm L (1968) Late infantile progressive encephalopathy with disturbed polyunsaturated fat metabolism. Acta Paediat Scand 57:495–499

  3. Haltia M, Rapola J, Santavuori P (1973) Infantile type of so-called neuronal ceroid-lipofuscinosis. Histological and electron-microscopic studies. Acta Neuropathol (Berl) 26:157–170

  4. Haltia M, Rapola J, Santavuori P, Keränen P (1973) Infantile type of so-called neuronal ceroid-lipofuscinosis. Part 2. Morphological and biochemical studies. J Neurol Sci 18:269–285

  5. Hellsten E, Vesa J, Speer MC, Mäkelä TP, Järvelä I, Alitalo K, Ott J, Peltonen L (1993) Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis. Genomics 16, 720–725

  6. Hofmann SL, Das AK, Lu JY, Wisniewski KE, Gupta P (2001) Infantile neuronal ceroid lipofuscinosis: no longer just a ´Finnish´ disease. Eur J Paediatr Neurol 5 Suppl A:47–51

  7. Järvelä I, Schleutker J, Haataja L, Santavuori P, Puhakka L, Manninen T, Palotie A, Sandkuijl LA, Renlund M, White R, Aula P, Peltonen L (1991) Infantile neuronal ceroid lipofuscinosis (INCL, CLN1) maps to the short arm of chromosome 1. Genomics 8:170–173

  8. Lehtovirta M, Kyttälä A, Eskelinen EL, Hess M, Heinonen O, Jalanko A (2001) Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: implications for infantile neuronal ceroid lipofuscinosis (INCL). Hum Mol Genet 10:69–75

  9. Lu JY, Verkruyse LA, Hofmann SL (2002) The effects of lysosomotropic agents on normal and INCL cells provide further evidence for the lysosomal nature of palmitoyl-protein thioesterase function. Biochim Biophys Acta 1583:35–44

  10. Lönnqvist T, Vanhanen SL, Vettenranta K, Autti T, Rapola J, Santavuori P, Saarinen-Pihkala UM (2001) Hematopoietic stem cell transplantation in infantile neuronal ceroid lipofuscinosis. Neurology 57:1411–1416

  11. Mannerkoski MK, Heiskala HJ, Santavuori PR, Pouttu JA (2001) Transdermal fentanyl therapy for pains in children with infantile neuronal ceroid lipofuscinosis. Eur J Paediatr Neurol 5 Suppl A:175–177

  12. Raitta C, Santavuori P (1973) Ophthalmological findings in infantile type of so-called neuronal ceroid lipofuscinosis. Acta Ophthalmol 51:755–763

  13. Riikonen R, Vanhanen SL, Tyynelä J, Santavuori P, Turpeinen U (2000) CSF insulin-like growth factor-1 in infantile neuronal ceroid lipofuscinosis. Neurology 54:1828–1832

  14. Salonen T, Heinonen-Kopra O, Vesa J, Jalanko A (2001) Neuronal trafficking of palmitoyl protein thioesterase provides an excellent model to study the effects of different mutations which cause infantile neuronal ceroid lipofuscinosis. Mol Cell Neurosci 18:131–140

  15. Salonen T, Järvelä I, Peltonen L, Jalanko A (2001) Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL; CLN1). Hum Mutat 15:273–279

  16. Santavuori P, Haltia M, Rapola J, Raitta C (1973) Infantile type of so-called neuronal ceroid-lipofuscinosis. Part 1. A clinical study of 15 patients. J Neurol Sci 18:257–267

  17. Van Diggelen OP, Keulemans JL, Kleijer WJ, Thobois S, Tilikete C, Voznyi YV (2001) Pre- amd postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2). Eur J Paediatr Neurol 5 Suppl A:189–192

  18. Vanhanen SL, Raininko R, Autti T, Santavuori P (1995) MRI evaluation of the brain in infantile neuronal ceroid- lipofuscinosis. Part 2: MRI findings in 21 patients. J Child Neurol 10:444–450

  19. Vanhanen SL, Sainio K, Lappi M, Santavuori P (1997) EEG and evoked potentials in infantile neuronal ceroid-lipofuscinosis. Develop Med Child Neurol 39:456–463

  20. Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, Hofmann SL, Peltonen L (1995) Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 376:584–587

References for IOSCA syndrome

  1. Kallio AK, Jauhiainen T (1985) A new syndrome of ophthalmoplegia, hypoacusis, ataxia, hypotonia and athetosis (OHAHA). Adv Audiol 3:84–90

  2. Koskinen T, Sainio K, Rapola J, Pihko H, Paetau A (1994) Sensory neuropathy in infantile onset spinocerebellar ataxia (IOSCA). Muscle & Nerve 17:509–515

  3. Koskinen T, Santavuori P, Sainio K, Lappi M, Kallio AK, Pihko H (1994) Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease. J Neurol Sci 121:50–56

  4. Lönnqvist T, Paetau A, Nikali K, von Boguslawski K, Pihko H (1998) Infant onset spinocerebellar ataxia with sensory neuropathy (IOSCA): neuropathological features. J Neurol Sci 161:57–65

  5. Nikali K, Suomalainen A, Terwilliger J, Koskinen T, Weissenbach J, Peltonen L (1995) Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus. Am J Hum Genet 56:1088–1095

  6. Nikali K, Isosomppi J, Lönnqvist T, Mao JI, Suomalainen A, Peltonen L (1997) Toward cloning of a novel ataxia gene: refined assignment and physical map of the IOSCA locus (SCA8) on 10q24. Genomics 39:185–191

  7. Varilo T, Nikali K, Suomalainen A, Lönnqvist T, Peltonen L (1996) Tracing an ancestral mutation: genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus. Genome Res 6:870–875

References for Jansky-Bielschowsky disease, Finnish variant

  1. Autti T, Raininko R, Launes J, Nuutila A, Santavuori P (1992) Jansky-Bielschowsky variant disease: CT, MRI and SPECT findings. Pediatr Neurol 8:121–126

  2. Holmberg V, Lauronen L, Autti T, Santavuori P, Savukoski M, Uvebrant P, Hofman I, Peltonen L, Järvelä I (2000) Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5). Neurology 55:579–581

  3. Isosomppi J, Vesa J, Jalanko A, Peltonen L (2002) Lysosomal localization of the neuronal lipofuscinosis CLN5 protein. Hum Mol Genet 11:885–891

  4. Kirveskari E, Partinen M, Santavuori P (2001) Sleep and its disturbance in a variant form of late infantile neuronal ceroid lipofuscinosis (CLN5). J Child Neurol 16:707–713

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  6. Lauronen L, Huttunen J, Kirveskari E, Wikström H, Sainio K, Autti T, Santavuori P (2002) Enlarged SI and SII somatosensory evoked responses in the CLN5 form of neuronal ceroid lipofuscinosis. Clin Neurophysiol 113:1491–1500

  7. Santavuori P, Rapola J, Sainio K, Raitta C (1982) A variant of Jansky-Bielschowsky disease. Neuropediatrics 13:135–141

  8. Santavuori P, Rapola J, Nuutila A, Raininko R, Lappi M, Launes J, Herva R, Sainio K (1991) The spectrum of Jansky-Bielschowsky disease. Neuropediatrics 22:92–96

  9. Savukoski M, Kestilä M, Williams R, Järvelä I, Sharp J, Harris J, Santavuori P, Gardiner M, Peltonen L (1994) Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses. Am J Hum Genet 55:695–701

  10. Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander ES, Peltonen L (1998) CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nat Genet 19:286–288

  11. Sharp JD, Wheeler RB, Lake BD, Savukoski M, Järvelä IE, Peltonen L, Gardiner RM, Williams RE (1997) Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21–23. Hum Mol Genet 6:591–595

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References for lysinuric protein intolerance

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  2. Kekomäki M, Visakorpi JK, Perheentupa J, Saxén L (1967) Familial protein intolerance with deficient transport of basic amino acids; an analysis of 10 patients. Acta Paediat Scand 56:617–630

  3. Koizumi A, Shoji Y, Nozaki J, Noguchi A, E X, Dakeishi M, Ohura T, Tsuyoshi K, Yasuhiko W, Manabe M, Takasago Y, Takada G (2000) A cluster of lysinuric protein intolerance (LPI) patients in a northern part of Iwate, Japan due to a founder effect. The Mass Screening Group. Hum Mutat 16:270–271

  4. Lauteala T, Sistonen P, Savontaus ML, Mykkänen J, Simell J, Lukkarinen M, Simell O, Aula P (1997) Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14. Am J Hum Genet 60:1479–1486

  5. Lauteala T, Mykkänen J, Sperandeo MP, Gasparini P, Savontaus ML, Simell O, Andria G, Sebastio G, Aula P (1998) Genetic homogeneity of lysinuric protein intolerance. Eur J Hum Genet 6:612–615

  6. Lukkarinen M, Näntö-Salonen K, Pulkki K, Mattila K, Simell O (2000) Effect of lysine infusion on urea cycle in lysinuric protein intolerance. Metabolism 49:621–625

  7. Mykkänen J, Torrents D, Pineda M, Camps M, Yoldi ME, Horelli-Kuitunen N, Huoponen K, Heinonen M, Oksanen J, Simell O, Savontaus ML, Zorzano A, Palacín M, Aula P (2000) Functional analysis of novel mutations in y+LAT-1 amino acid transporter gene causing lysinuric protein intolerance. Hum Mol Genet 9:431–438

  8. Noguchi A, Shoji Y, Koizumi A, Takahashi T, Matsumori M, Kayo T, Ohata T, Wada Y, Yoshimura I, Maisawa S, Konishi M, Takasago Y, Takada G (2000) SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families. Hum Mutat 15:367–372

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References for Meckel syndrome

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  8. Paavola P. Salonen R, Weissenbach J, Peltonen L (1995) The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. Nat Genet 11:213–215

  9. Paavola P, Salonen R, Baumer A, Schinzel A, Boyd PA, Gould S, Meusburger H, Tenconi R, Barnicoat A, Winter R, Peltonen L (1997) Clinical and genetic heterogeneity in Meckel syndrome. Hum Genet 101:88–92

  10. Paavola P, Avela K, Horelli-Kuitunen N, Bärlund M, Kallioniemi A, Idänheimo N, Kyttälä M, de la Chapelle A, Palotie A, Lehesjoki AE, Peltonen L (1999) High-resolution physical and genetic mapping of the critical region for Meckel syndrome and mulibrey nanism on chromosome 17q22-q23. Genome Res 9:267–276

  11. Paetau A, Salonen R, Haltia M (1985) Brain pathology in the Meckel syndrome, a study of 59 cases. Clin Neuropathol 4:56–62

  12. Rapola J, Salonen R (1985) Visceral anomalies in the Meckel syndrome. Teratology 31:193–201

  13. Roume J, Genin E, Cormier-Daire V, Ma HW, Mehaye B, Attie T, Razavi-Encha F, Munnich A, Le Merrer M (1998) A gene for Meckel syndrome maps to chromosome 11q13. Am J Hum Genet 63:1095–1101

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  18. Sergi C, Adam S, Kahl P, Otto HF (2000) Study of the malformation of ductal plate of the liver in Meckel syndrome and review of other syndromes presenting with this anomaly. Pediatr Dev Pathol 3:568–583

  19. Teebi AS, al Saleh QA, Odeh H (1992) Meckel syndrome and neural tube defects in Kuwait. J Med Genet 29:140

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References for Meretoja disease

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  2. Haltia M, Ghiso J, Prelli F, Gallo G, Kiuru S, Somer H, Palo J, Frangione B (1990) Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin. Am J Pathol 136:1223–1228

  3. Kangas H, Seidah NG, Paunio T (2002) Role of proprotein convertases in the pathogenic processing of the amyloidosis-associated form of secretory gelsolin. Amyloid 9:83–87

  4. Kazmirski SL, Isaacson RL, An C, Buckle A, Johnson CM, Daggett V, Fersht AR (2002) Loss of metal-binding site in gelsolin leads to familial amyloidosis Finnish type. Nat Struct Biol 9:112–116

  5. Kiuru S (1992) Familial amyloidosis of the Finnish type (FAF): a clinical study of 30 patients. Acta Neurol Scand 86:346–353

  6. Kiuru S (1998) Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide. Amyloid Int J Exp Clin Invest 5:55–66

  7. Kiuru S,Seppäläinen AM (1994) Neuropathy in familial amyloidosis, Finnish type (FAF): electrophysiological studies. Muscle Nerve 17:299–304

  8. Kiuru S, Nieminen T, Partinen M (1999) Obstructive sleep apnea syndrome in hereditary gelsolin-related amyloidosis. J Sleep Res 81:143–149

  9. Kiuru S, Salonen O, Haltia M (1999) Gelsolin-related spinal and cerebral amyloid angiopathy. Ann Neurol 45:305–311

  10. Kiuru S, Javela K, Somer H, Kekomäki R (2000) Altered platelet shape change in hereditary gelsolin Asp187Asn amyloidosis. Thromb Haemost 83:491–495

  11. Kiuru-Enari S, Somer H, Seppäläinen AM, Notkola IL, Haltia M (2002) Neuromuscular pathology in hereditary gelsolin amyloidosis. J Neuropathol Exp Neurol 61:565–571

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  13. Maury CPJ, Alli K, Baumann M (1990) Finnish hereditary amyloidosis. Amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline. FEBS Lett 260:85–87

  14. Maury CPJ, Kere J, Tolvanen R, de la Chapelle A (1990) Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene. FEBS Lett 276:75–77

  15. Maury CP, Liljeström M, Boysen G, Törnroth T, de la Chapelle A, Nurmiaho-Lassila EL (2000) Danish type gelsolin related amyloidosis: 654G>T mutation is associated with a disease pathogenetically and clinically similar to that caused by the 654G>A mutation (familial amyloidosis of the Finnish type). J Clin Pathol 53:95–99

  16. Meretoja J (1969) Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. Ann Clin Res 1:314–324

  17. Meretoja J (1973) Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy. Clin Genet 4:173–185

  18. Paunio T, Kangas H, Kalkkinen N, Haltia M, Palo J, Peltonen L (1994) Towards understanding the pathogenetic mechanism in gelsolin-related amyloidosis: in vitro expression reveals an abnormal gelsolin fragment. Hum Mol Genet 3:2223–2229

  19. Rintala AE, Alanko A, Mäkinen J, Nordström R, Salo H (1988) Primary hereditary systemic amyloidosis (Meretoja's syndrome): clinical features and treatment by plastic surgery. Scand J Plast Reconstr Surg 22:141–145

  20. Rosenberg ME, Tervo TM, Gallar J, Acosta MC, Muller LJ, Moilanen JA, Tarkkanen AH, Vesaluoma MH (2001) Corneal morphology and sensitivity in lattice dystrophy type II (familial amyloidosis, Finnish type). Invest Ophthalmol Vis Sci 42:634–641

References for mulibrey nanism

  1. Avela K, Lipsanen-Nyman M, Perheentupa J, Wallgren-Pettersson C, Marchand S, Fauré S, Sistonen P, de la Chapelle A, Lehesjoki AE (1997) Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis. Am J Hum Genet 60:896–902

  2. Avela K, Lipsanen-Nyman M, Idänheimo N, Seemanová E, Rosengren S, Mäkelä TP, Perheentupa J, de la Chapelle A, Lehesjoki AE (2000) Gene encoding a new RING-B-box-coiled-coil protein is mutated in mulibrey nanism. Nat Genet 25:298–301

  3. Kallijärvi J, Avela K, Lipsanen-Nyman M, Ulmanen I, Lehesjoki AE (2002) The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder. Am J Hum Genet 70:1215–1228

  4. Lapunzina P, Rodríguez JI, de Matteo E, Gracia R, Moreno F (1995) Mulibrey nanism: three additional patients and a review of 39 patients. Am J Med Genet 55:349–355

  5. Lipsanen-Nyman M (1986) Mulibrey-nanismi (in Finnish, English summary). Thesis, University of Helsinki

  6. Paavola P, Avela K, Horelli-Kuitunen N, Bärlund M, Kallioniemi A, Idänheimo N, Kyttälä M, de la Chapelle A, Palotie A, Lehesjoki AE, Peltonen L (1999) High resolution physical and genetic mapping of the critical region for Meckel syndrome and mulibrey nanism on chromosome 17q22-q23. Genome Res 9:267–276

  7. Perheentupa J, Autio S, Leisti S, Raitta C (1970) Mulibrey-nanism: dwarfism with muscle, liver, brain and eye involvement. Acta Paediatr Scand 59 Suppl 206:74–75

  8. Perheentupa J, Autio S, Leisti S, Raitta C, Tuuteri L (1973) Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction. Lancet II:351–355

  9. Perheentupa J, Autio S, Leisti S, Raitta C, Tuuteri L (1975) Mulibrey nanism: review of 23 cases of a new autosomal recessive syndrome. Birth Defects Original Article Series Vol XI No 2:3–17

  10. Raitta C, Perheentupa J (1974) Mulibrey nanism; an inherited dysmorphic syndrome with characteristic ocular findings. Acta Ophthalmol Suppl 123:162–171

References for muscle-eye-brain disease

  1. Auranen M, Rapola J, Pihko H, Haltia M, Leivo I, Soinila S, Virtanen I, Kalimo H, Anderson LV, Santavuori P, Somer H (2000) Muscle membrane-skeleton protein changes and histopathological characterization of muscle-eye-brain disease. Neuromuscul Disord 10:16–23

  2. Cormand B, Avela K, Pihko H, Santavuori P, Talim B, Topaloglu H, de la Chapelle A, Lehesjoki AE (1999) Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping. Am J Hum Genet 64:126–135

  3. Cormand B, Pihko H, Bayes M, Valanne L, Santavuori P, Talim B, Gershoni-Baruch R, Ahmad A, van Bokhoven H, Brunner HG, Voit T, Topaloglu H, Dobyns WB, Lehesjoki AE (2001) Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology 56:1059–1069

  4. Dobyns WB, Pagon RA, Curry CJR, Greenberg F (1990) Response to Santavuori et al. regarding Walker-Warburg syndrome and muscle-eye-brain disease. Am J Med Genet 36:373–374

  5. Haltia M, Leivo I, Somer H, Pihko H, Paetau A, Kivelä T, Tarkkanen A, Tomé F, Engvall E, Santavuori P (1997) Muscle-eye-brain disease: a neuropathological study. Ann Neurol 41:173–180

  6. Kano H, Kobayashi K, Herrmann R, Tachikawa M, Manya H, Nishino I, Nonaka I, Straub V, Talim B, Voit T, Topaloglu H, Endo T, Youshikawa H, Toda T (2002) Deficiency of alpha-dystroglycan in muscle-eye-brain disease. Biochem Biophys Res Commun 291:1283–1286

  7. Michele DE, Barresi R, Kanagawa M, Saito F, Cohn RD, Satz JS, dollar J, Nishino I, Kelley RI, Somer H, Straub V, Mathews KD, Moore SA, Campbell KP (2002) Post-translational disruption of dystroglycan-ligand interactions in congenital musular dystrophies. Nature 418:417–422

  8. Moore SA, Saito F, Chen J, Michele DE, Henry MD, Messing A, Cohn RD, Ross-Barta SE, Westra S, Williamson RA, Hoshi T, Campbell KP (2002) Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. Nature 418:422–425

  9. Pihko H, Lappi M, Raitta C, Sainio K, Valanne L, Somer H, Santavuori P (1995) Ocular findings in muscle-eye-brain (MEB) disease: a follow-up study. Brain Dev 17:57–61

  10. Raitta C, Lamminen M, Santavuori P, Leisti J (1978) Ophthalmological findings in a new syndrome with muscle, eye and brain involvement. Acta Ophthalmol 56:465–472

  11. Ranta S, Pihko H, Santavuori P, Tahvanainen E, de la Chapelle A (1995) Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic. Neuromusc Disord 5:221–225

  12. Santavuori P, Leisti J, Kruus S (1977) Muscle, eye and brain disease: a new syndrome. Neuropädiatrie 8 (Suppl):553–558

  13. Santavuori P, Somer H, Sainio K, Rapola J, Kruus S, Nikitin T, Ketonen L, Leisti J (1989) Muscle-eye-brain disease (MEB). Brain Dev 11:147–153

  14. Santavuori P, Pihko H, Sainio K, Lappi M, Somer H, Haltia M, Raitta C, Ketonen L, Leisti J (1990) Muscle-eye-brain disease and Walker-Warburg syndrome. Am J Med Genet 36:371–372

  15. Santavuori P, Valanne L, Autti T, Haltia M, Pihko H, Sainio K (1998) Muscle-eye-brain disease; clinical features, visual evoked potentials and brain imaging in 20 patients. Eur J Paediatr Neurol 1:41–47

  16. Valanne L, Pihko H, Katevuo K, Karttunen P, Somer H, Santavuori P (1994) MRI of the brain in muscle-eye-brain (MEB) disease. Neuroradiology 36:473–476

  17. Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, Inazu T, Mizuhashi H, Takahashi S, Takeuchi M, Herrman R, Straub V, Talim B, Voit T, Topaloglu H, Toda T, Endo T (2001) Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Develop Cell 1:717–724

References for neuronal ceroid lipofuscinoses

  1. Åberg L, Järvelä I, Rapola J, Autti T, Kirveskari E, Lappi M, Sipilä L, Santavuori P (1998) Atypical juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposit -like inclusions in the autonomic nerve cells of the gut wall. Acta Neuropathol 95:306–312

  2. Das AK, Becerra CHR, Yi W, Lu JY, Siakotos AN, Wisniewski KE (1998) Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. J Clin Invest 102:361–370

  3. Goebel HH, Mole SE, Lake BD (eds) (1999) The neuronal ceroid lipofuscinoses (Batten disease). IOS Press, Amsterdam

  4. Haltia M (2003) The neuronal ceroid-lipofuscinoses. J Neuropathol Exp Neurol 62:1–13

  5. Haltia M, Herva R, Suopanki J, Baumann M, Tyynelä J (2001) Hippocampal lesions in the neuronal ceroid lipofuscinoses. Eur J Paediatr Neurol 5 (Suppl A):209–211

  6. Heinonen O, Salonen T, Jalanko A, Peltonen L, Copp A (2000) CLN-1 and CLN-5, genes for infantile and variant late infantile neuronal ceroid lipofuscinoses, are expressed in the embryonic human brain. J Comp Neurol 426:406–412

  7. Mitchell WA, Wheeler RB, Sharp JD, Bate SL, Gardiner RM, Ranta US, Lonka L, Williams RE, Lehesjoki AE, Mole SE (2001) Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8. Eur J Paediatr Neurol 5 (Suppl A):21–27

  8. Mitchison HM, Mole SE (eds) (2001) Recent advances in the neuronal ceroid lipofuscinoses. Eur J Paediatr Neurol 5 (Suppl A)

  9. Mitchison HM, Hofmann SL, Becerra CHR, Munroe P, Lake BD, Crow YJ, Stephenson JBP, Williams RE, Hofman IL, Taschner PEM, Martin JJ, Philippart M, Andermann E, Andermann F, Mole SE, Gardiner RM, O'Rawe AM (1998) Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Hum Mol Genet 7:291–297

  10. Ranta S, Savukoski M, Santavuori P, Haltia M (2001) Studies of homogenous populations: CLN5 and CLN8. Adv Genet 45:123–140

  11. Rapola J, Santavuori P, Savilahti E (1984) Suction biopsy of rectal mucosa in the diagnosis of infantile and juvenile types of neuronal ceroid-lipofuscinoses. Hum Pathol 15:352–360

  12. Santavuori P, Vanhanen SL, Autti T (2001) Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinosis disorders. Eur J Paediatr Neurol 5 (Suppl A):157–161

  13. Van Diggelen OP, Thobois S, Tilikete C, Zabot MT, Keulemans JLM, van Bunderen PA, Taschner PEM, Losekoot M, Voznyi YV (2001) Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. Ann Neurol 50:269–272

  14. Vesa J, Chin MH, Oelgeschlager K, Isosomppi J, DellAngelica EC, Jalanko A, Peltonen L (2002) Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3. Mol Biol Cell 13:2410–2420

  15. Wisniewski KE (2001) Pheno/genotypic correlations of neuronal ceroid lipofuscinoses. Neurology 57:576–581

  16. Wisniewski KE, Zhong N (eds) (2001) Batten disease. Adv Genet 45: (several articles on different NCL diseases)

References for nonketotic hyperglycinemia

  1. Choi CG, Lee HK, Yoon JH (2001) Localized proton MR spectroscopic detection of nonketotic hyperglycinemia in an infant. Korean J Radiol 2:239–242

  2. Gerritsen T, Kaveggia E, Waisman HA (1965) A new type of idiopathic hyperglycinemia with hypo-oxaluria. Pediatrics 36:882–891

  3. Hamosh A, Johnston MV (2001) Nonketotic hyperglycinemia. In: Scriver CR, Beaudet AL, Valle D, Sly WS (eds) The metabolic & molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 2065–2078

  4. Huisman TA, Thiel T, Steinmann B, Zeilinger G, Martin E (2002) Proton magnetic resonance spectroscopy of the brain of a neonate with nonketotic hyperglycinemia: in vivo—in vitro (ex vivo) correlation. Eur Radiol 12:858–861

  5. Kure S, Takayanagi M, Narisawa K, Tada K, Leisti J (1992) Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia. J Clin Invest 90:160–164

  6. Press GA, Barshop BA, Haas RH, Nyhan WL, Glass RF, Hesselink JR (1989) Abnormalities of the brain in nonketotic hyperglycinemia: MR manifestations. Am J Neuroradiol 10:315–321

  7. Tada K, Kure S (1993) Non-ketotic hyperglycinaemia: molecular lesion, diagnosis and pathophysiology. J Inher Metab Dis 16:691–703

  8. Visakorpi JK, Donner M, Norio R (1965) Hyperglycinuria with severe neurological manifestations. Ann Paediatr Fenn 11:114–117

  9. von Wendt L, Similä S, Hirvasniemi A, Suvanto E (1978) Nonketotic hyperglycinaemia. A clinical analysis of 19 Finnish patients. Monogr Hum Genet 9:58–64

  10. von Wendt L, Similä S, Hirvasniemi A, Suvanto E (1978) Altered levels of various amino acids in blood plasma and cerebrospinal fluid of patients with nonketotic hyperglycinemia. Neuropädiatrie 9:360–368

  11. von Wendt L, Hirvasniemi A, Similä S (1979) Nonketotic hyperglycinemia. A genetic study of 13 Finnish families. Clin Genet 15:411–417

  12. von Wendt L, Alanko H, Sorri M, Toivakka E, Saukkonen AL, Similä S (1981) Clinical and neurophysiological findings in heterozygotes for nonketotic hyperglycinemia. Clin Genet 19:94–100

References for northern epilepsy

  1. Herva R, Tyynelä J, Hirvasniemi A, Syrjäkallio-Ylitalo M, Haltia M (2000) Northern epilepsy: a novel form of neuronal ceroid-lipofuscinosis. Brain Pathol 10:215–222 (also in Abstracts, 12. Scandinavian Congress of Neurology, June 10–13, 1998, Oulu, Finland)

  2. Hirvasniemi A, Leisti J (1991) An inherited form of childhood epilepsy associated with mental retardation. Am J Hum Genet 49 (Suppl, without number):147

  3. Hirvasniemi A, Lang H, Lehesjoki AE, Leisti J (1994) Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration. J Med Genet 31:177–182

  4. Lauronen L, Santavuori P, Hirvasniemi A, Kirveskari E, Huttunen J, Autti T (2001) Northern epilepsy syndrome (NES, CLN8) — MRI and electrophysiological studies. Eur J Paediat Neurol 5:167–173

  5. Lonka L, Kyttälä A, Ranta S, Jalanko A, Lehesjoki AE (2000) The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. Hum Mol Genet 9:1691–1697

  6. Ranta S, Lehesjoki AE, de Fatima Bonaldo M, Knowles JA, Hirvasniemi A, Ross B, de Jong PJ, Bento Soares M, de la Chapelle A, Gilliam TC (1997) High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p. Genome Res 7:887–896

  7. Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Bento Soares M, de Fatima Bonaldo M, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE (1999) The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Nat Genet 23:233–236

  8. Tahvanainen E, Ranta S, Hirvasniemi A, Karila E, Leisti J, Sistonen P, Weissenbach J, Lehesjoki AE, de la Chapelle A (1994) The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8. Proc Natl Acad Sci USA 91:7267–7270

References for PEHO syndrome

  1. Chitty LS, Robb S, Berry C, Silver D, Baraitser M (1996) PEHO or PEHO-like syndrome? Clin Dysmorphol 5:143–152

  2. Fujimoto S, Yokochi K, Nakano M, Wada Y (1995) Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in two Japanese siblings. Neuropediatrics 26:270–272

  3. Haltia M, Somer M (1993) Infantile cerebello-optic atrophy; neuropathology of the progressive encephalopathy syndrome with edema, hypsarrhythmia and optic atrophy (the PEHO syndrome). Acta Neuropathol 85:241–247

  4. Salonen R, Somer M, Haltia M, Lorenz M, Norio R (1991) Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome). Clin Genet 39:287–293

  5. Somer M (1993) Diagnostic criteria and genetics of the PEHO syndrome. J Med Genet 30:932–936

  6. Somer M, Salonen O, Pihko H, Norio R (1993) PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy): neuroradiological findings. Am J Neuroradiol 14:861–867

  7. Somer M, Setälä K, Kivelä T, Haltia M, Norio R (1993) The PEHO syndrome (progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy); ophthalmological findings and differential diagnosis. Neuro-ophthalmology 13:65–72

  8. Vanhatalo S, Somer M, Barth PG (2002) Dutch patients with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome. Neuropediatrics 33:100–104

References for PLO-SL

  1. Hakola HPA (1972) Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia. Acta Psychiatr Scand Suppl 232

  2. Hakola HPA (1990) Polycystic lipomembranous osteodysplasia with sclerosing encephalopathy (membranous lipodystrophy); a neuropsychiatric follow-up study with an appendix by PEJ Virtama, MT Hakola and HPA Hakola: Bone radiography of PLO-SL cases. Monographs of Psychiatria Fennica 17

  3. Järvi OH, Lauttamus LL, Solonen KA (1964) Membranous reticulin dysplasia of bones. Probably a new disease entity. (Only title). In: Proceedings of the 14th Scandinavian congress of pathology and microbiology. Universitetsforlaget, Oslo, p 51

  4. Järvi OH, Hakola HPA, Lauttamus LL, Solonen KA, Vilppula AH (1968) Cystic capillary-necrotic osteodysplasia, a systemic bone disease probably caused by arteriolar and capillary necroses. Relation to brain affections. Abstracts, Seventh International Congress of International Academy of Pathology, Milan 1968, pp 291–292

  5. Kalimo H, Sourander P, Järvi O, Hakola P (1994) Vascular changes and blood-brain barrier damage in the pathogenesis of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy). Acta Neurol Scand 89:353–361

  6. Nasu T, Tsukahara Y, Terayama K (1973) A lipid metabolic disease — membranous lipodystrophy — an autopsy case demonstrating numerous peculiar membrane-structures composed of compound lipid in bone and bone marrow and various adipose tissues. Acta Pathol Jap 23:539–558

  7. Nylander PO, Drugge U, Holmgren G, Adolfsson R (1996) Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO-SL): a genealogic study of Swedish families of probable Finnish background. Clin Genet 50:353–357

  8. Paloneva J, Kestilä M, Wu J, Salminen A, Böhling T, Ruotsalainen V, Hakola P, Bakker ABH, Phillips JH, Pekkarinen P, Lanier LL, Timonen T, Peltonen L (2000) Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. Nat Genet 25:357–361

  9. Paloneva J, Autti T, Raininko R, Partanen J, Salonen O, Puranen M, Hakola P, Haltia M (2001) CNS manifestations of Nasu-Hakola disease: a frontal dementia with bone cysts. Neurology 56:1552–1558

  10. Paloneva J, Manninen T, Christman G, Hovanes K, Mandelin J, Adolfsson R, Bianchin M, Bird T, Miranda R, Salmaggi A, Tranebjaerg L, Konttinen Y, Peltonen L (2002) Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. Am J Hum Genet 71:656–662

  11. Pekkarinen P, Hovatta I, Hakola P, Järvi O, Kestilä M, Lenkkeri U, Adolfsson R, Holmgren G, Nylander PO, Tranebjaerg L, Terwilliger JD, Lönnqvist J, Peltonen L (1998) Assignment of the locus for PLO-SL, a frontal lobe dementia with bone cysts, to 19q13. Am J Hum Genet 62:362–372

  12. Pekkarinen P, Kestilä M, Paloneva J, Terwilliger J, Varilo T, Järvi O, Hakola P, Peltonen L (1998) Fine-scale mapping of a novel dementia gene, PLO-SL, by linkage disequilibrium. Genomics 54:307–315

  13. Terayama K (1961) Two cases of cystic bone disease showing peculiar features. Nippon Seikeigeka Gakkai Zasshi 35:626 (in Japanese)

  14. Verloes A, Maquet P, Sadzot B, Vivario M, Thiry A, Franck G (1997) Syndrome of the month: Nasu-Hakola syndrome: polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy and presenile dementia. J Med Genet 34:753–757

References for progressive myoclonus epilepsy, Unverricht-Lundborg type

  1. Berkovic SF, So NK, Andermann F (1991) Progressive myoclonus epilepsies: clinical and neurophysiological diagnosis. J Clin Neurophysiol 8:261–274

  2. Fedi M, Reutens D, Dubeau F, Andermann E, D´Agostino D, Andermann F (2001) Long-term efficacy and safety of piracetam in the treatment of progressive myoclonus epilepsy. Arch Neurol 58:781–786

  3. Forss N, Silen T, Karjalainen T (2001) Lack of activation of human secondary somatosensory cortex in Unverricht-Lundborg type of progressive myoclonus epilepsy. Ann Neurol 49:90–97

  4. Haltia M, Kristensson K, Sourander P (1969) Neuropathological studies in three Scandinavian cases of progressive myoclonus epilepsy. Acta Neurol Scand 45:63–77

  5. Harenko A, Toivakka E (1961) Myoclonus epilepsy (Unverricht-Lundborg) in Finland. Acta Neurol Scand 37:282–296

  6. Koskiniemi M, Donner M, Majuri H, Haltia M, Norio R (1974) Progressive myoclonus epilepsy. A clinical and histopathological study. Acta Neurol Scand 50:307–332

  7. Lafrenière RG, Rochefort DL, Chrétien N, Rommens JM, Cochius JI, Kälviäinen R, Nousiainen U, Patry G, Farrell K, Söderfeldt B, Federico A, Hale BR, Hernandez Cossio O, Sörensen T, Pouliot MA, Kmiec T, Uldall P, Janszky J, Pranzatelli MR, Andermann F, Andermann E, Rouleau GA (1997) Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. Nat Genet 15:298–302

  8. Lalioti MD, Scott HS, Buresi C, Rossier C, Bottani A, Morris MA, Malafosse A, Antonarakis SE (1997) Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature 386:847–851

  9. Lehesjoki AE, Koskiniemi M (1998) Clinical features and genetics of progressive myoclonus epilepsy of the Unverricht-Lundborg type. Ann Med 30:474–480

  10. Lehesjoki AE, Koskiniemi M, Sistonen P, Miao J, Hästbacka J, Norio R, de la Chapelle A (1991) Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22. Proc Natl Acad Sci USA 88:3696–3699

  11. Lehesjoki AE, Koskiniemi M, Pandolfo M, Antonelli A, Kyllerman M, Wahlström J, Nergårdh A, Burmeister M, Sistonen P, Norio R, de la Chapelle A (1992) Linkage studies in progressive myoclonus epilepsy: Unverricht-Lundborg and Lafora's diseases. Neurology 42:1545–1550

  12. Lundborg H (1901) Über Degeneration und degenerierte Geschlechter in Schweden. I. Klinische Studien und Erfahrungen hinsichtlich der familiären Myoklonie und damit verwandter Krankheiten. Isaac Marcus´ Boktr.-Aktiebolag, Stockholm

  13. Lundborg H (1903) Die progressive Myoklonus-Epilepsie (Unverrichts Myoklonie). Almqvist & Wiksell, Uppsala

  14. Malafosse A, Lehesjoki AE, Genton P, Labauge P, Durand G, Tassinari CA, Dravet C, Michelucci R, de la Chapelle A (1992) Identical genetic locus for Baltic and Mediterranean myoclonus. Lancet 339:1080–1081

  15. Marseille Consensus Group (1990) Classification of progessive myoclonus epilepsies and related disorders. Ann Neurol 28:113–116

  16. Moulard B, Genton P, Grid D, Jeanpierre M, Ouazzani R, Mrabet A, Morris M, LeGuern E, Dravet C, Mauguiere F, Utermann B, Baldy-Moulinier M, Belaidi H, Bertran F, Biraben A, Ali Cherif A, Chkili T, Crespel A, Darcel F, Dulac O, Geny C, Humbert-Claude V, Kassiotis P, Buresi C, Malafosse A (2002) Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations. Hum Genet 111:255–262

  17. Norio R, Koskiniemi M (1979) Progressive myoclonus epilepsy; genetic and nosological aspects with a special reference to 107 Finnish patients. Clin Genet 15:382–398

  18. Pennacchio LA, Lehesjoki AE, Stone NE, Willour VL, Virtaneva K, Miao J, D'Amato E, Ramirez L, Faham M, Koskiniemi M, Warrington JA, Norio R, de la Chapelle A, Cox DR, Myers RM (1996) Mutations in the gene encoding cystatin B in progressive myoclonmus epilepsy (EPM1). Science 271:1731–1734

  19. Pennacchio LA, Bouley DM, Higgins KM, Scott MP, Noebels JL, Myers RM (1998) Progressive ataxia, myoclonus epilepsy and cerebellar apoptosis in cystatin B-deficient mice. Nat Genet 20:251–258

  20. Unverricht H (1891) Die Myoclonie. Deuticke, Leipzig und Wien

  21. Unverricht H (1895) Über familiäre Myoclonie. Dtsch Z Nervenheilkd 7:32–67

  22. Uthman BM, Reichl A (2002) Progressive myoclonus epilepsies. Curr Treat Options Neurol 4:3–17 (data on zonisamide and piracetam medication)

  23. Virtaneva K, D´Amato E, Miao J, Koskiniemi M, Norio R, Avanzini G, Franchescetti S, Michelucci R, Tassinari CA, Omer S, Pennacchio LA, Myers RM, Dieguez-Lucena JL, Krahe R, de la Chapelle A, Lehesjoki AE (1997) Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1. Nat Genet 15:393–396

References for Rapadilino syndrome

  1. Jam K, Fox M, Crandall BF (1999) RAPADILINO syndrome: a multiple malformation syndrome with radial and patellar aplasia. Teratology 60:37–38

  2. Kant SG, Baraitser M, Milla PJ, Winter (1998) Rapadilino syndrome—a non-Finnish case. Clin Dysmorphol 7:135–138

  3. Kääriäinen H, Ryöppy S, Norio R (1989) RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations. Am J Med Genet 33:346–351

  4. Regla Vargas F, Cabral de Almeida JC, Clinton Llerena JJr, Fagundes Reis D (1992) RAPADILINO syndrome. Am J Med Genet 44:716–719

References for retinoschisis

  1. Alitalo T, Kruse TA, de la Chapelle A (1991) Refined localization of the gene causing X-linked juvenile retinoschisis. Genomics 9:505–510

  2. de la Chapelle A, Alitalo T, Forsius H (1994) X-linked juvenile retinoschisis. In: Wright AW, Jay B (eds) Molecular genetics of inherited eye disorders (Modern genetics vol.2). Harwood Academic Publications, Great Britain, pp 339–357

  3. Forsius H, Vainio-Mattila B, Eriksson A (1962) X-linked hereditary retinoschisis. Brit J Ophthalmol 46:678–681

  4. Forsius H, Krause U, Helve J, Vuopala V, Mustonen E, Vainio-Mattila B, Fellman J, Eriksson AW (1973) Visual acuity in 183 cases of X-chromosomal retinoschisis. Can J Ophthalmol 8:385–393

  5. Forsius HR, Eriksson AW, Damsten M (1990) Progression in juvenile X-chromosomal retinoschisis. Acta Ophthalmol 68 Suppl 195: 113–119

  6. Grayson C, Reid SN, Ellis JA, Rutherford A, Sowden JC, Yates JR, Farber DB, Trump D (2000) Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells. Hum Mol Genet 9:1873–1879

  7. Haas J (1898) Über das Zusammenvorkommen von Veränderungen der Retina und Chorioidea. Arch Augenheilkd 37:343–348

  8. Huopaniemi L, Rantala A, Tahvanainen E, de la Chapelle A, Alitalo T (1997) Linkage disequilibrium and physical mapping of X-linked juvenile retinoschisis. Am J Hum Genet 60:1139–1149

  9. Huopaniemi L, Rantala A, Forsius H, Somer M, de la Chapelle A, Alitalo T (1999) Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland. Eur J Hum Genet 7:368–376

  10. Molday LL, Hicks D, Sauer CG, Weber BH, Molday RS (2001) Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells. Invest Ophthalmol Vis Sci 42:816–825

  11. The Retinoschisis Consortium (1998) Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS). Hum Mol Genet 7:1185–1192

  12. Sauer CG, Gehrig A, Warneke-Wittstock R, Marquardt A, Ewing CC, Gibson A, Lorenz B, Jurklies B, Weber BHF (1997) Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet 17:164–170

  13. Vainio-Mattila B, Eriksson AW, Forsius H (1969) X-chromosomal recessive retinoschisis in the region of Pori; an ophthalmo-genetical analysis of 103 cases. Acta Ophthalmol 47:1135–1148

References for Salla disease

  1. Aula N, Salomäki P, Timonen R, Verheijen F, Mancini G, Mansson JE, Aula P, Peltonen L (2000) The spectrum of SLC17A5-gene mutations resulting in free sialic acid storage diseases indicates some genotype-phenotype correlation. Am J Hum Genet 67:832–840

  2. Aula P, Gahl WA (2001) Disorders of free sialic acid storage. In: Scriver CR, Beaudet AL, Valle D, Sly WS (eds) The metabolic & molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 5109–5120

  3. Aula P, Autio S, Raivio K, Rapola J, Thodén CJ, Koskela SL, Yamashina I (1979) "Salla disease". A new lysosomal storage disorder. Arch Neurol 36:88–94

  4. Haataja L, Parkkola R, Sonninen P, Vanhanen SL, Schleutker J, Äärimaa T, Turpeinen V, Renlund M, Aula P (1994) Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder. Neuropediatrics 25:1–7

  5. Haataja L, Schleutker J, Laine AP, Renlund M, Savontaus ML, Dib C, Weissenbach J, Peltonen L, Aula P (1994) The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6. Am J Hum Genet 54:1042–1049

  6. Havelaar AC, Beerens CEMT, Mancini GMS, Verheijen FW (1999) Transport of organic anions by the lysosomal sialic acid transporter: a functional approach towards the gene for sialic acid storage disease. FEBS Lett 446:65–68

  7. Leppänen P, Isosomppi J, Schleutker J, Aula P, Peltonen L (1996) A physical map of the 6q14-q15 region harboring the locus for the lysosomal membrane sialic acid transport defect. Genomics 37:62–67

  8. Renlund M, Aula P, Raivio K, Autio S, Sainio K, Rapola J, Koskela SL (1983) Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism. Neurology 33:57–66

  9. Renlund M, Kovanen PT, Raivio KO, Aula P, Gahmberg CG, Ehnholm C (1986) Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. J Clin Invest 77:568–574

  10. Salomäki P, Aula N, Juvonen V, Renlund M, Aula P (2001) Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families. Prenat Diagn 21:354–358

  11. Schleutker J, Laine AP, Haataja L, Renlund M, Weissenbach J, Aula P, Peltonen L (1995) Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15. Genomics 27:286–292

  12. Schleutker J, Leppänen P, Månsson JE, Erikson A, Weissenbach J, Peltonen L, Aula P (1995) Lysosomal free sialic acid storage disorders with different phenotypic presentations — infantile-form sialic acid storage disease and Salla disease — represent allelic disorders on 6q14–15. Am J Hum Genet 57:893–901

  13. Varho T, Jääskeläinen S, Tolonen U, Sonninen P, Vainionpää L, Aula P, Sillanpää M (2000) Central and peripheral nervous system dysfunction in the clinical variation of Salla disease. Neurology 55:99–104

  14. Varho TT, Alajoki LE, Posti KM, Korhonen TT, Renlund MG, Nyman SRG, Sillanpää ML, Aula PP (2002) Phenotypic spectrum of Salla disease, a free sialic acid storage disorder. Pediat Neurol 26:267–273

  15. Verheijen FW, Verbeek E, Aula N, Beerens CEMT, Havelaar AC, Joosse M, Peltonen L, Aula P, Galjaard H, van der Spek PJ, Mancini GMS (1999) A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. Nat Genet 23:462–465

References for selective malabsorption of vitamin B12

  1. Aminoff M, Tahvanainen E, Gräsbeck R, Weissenbach J, Broch H, de la Chapelle A (1995) Selective intestinal malabsorption of vitamin B12 displays recessive Mendelian inheritance: assignment of a locus to chromosome 10 by linkage. Am J Hum Genet 57:824–831

  2. Aminoff M, Carter JE, Chadwick RB, Johnson C, Gräsbeck R, Abdelaal MA, Broch H, Jenner LB, Verroust PJ, Moestrup SK, de la Chapelle A, Krahe R (1999) Mutations in CUBN, encoding the intrinsic factor — vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. Nat Genet 21:309–313

  3. Dugue B, Aminoff M, Aimone-Gastin I, Leppänen E, Gräsbeck R, Gueant JL (1998) A urinary radioisotope-binding assay to diagnose Gräsbeck-Imerslund disease. J Pediatr Gastroenterol Nutr 26:21–25

  4. Furuhjelm U, Nevanlinna HR (1973) Inheritance of selective malabsorption of vitamin B12. Scand J Haematol 11:27–34

  5. Fyfe JC, Giger U, Hall CA, Jezyk PF, Klompp SA, Levine JS, Patterson DF (1991) Inherited selective intestinal cobalamin malabsorption and cobalamin deficiency in dogs. Pediat Res 29:24–31

  6. Gräsbeck R, Gordin R, Kantero I, Kuhlbäck B (1960) Selective vitamin B12 malabsorption and proteinuria in young people: a syndrome. Acta Med Scand 167:289–296

  7. Guéant JL, Saunier M, Gastin I, Safi A, Lamireau T, Duclos B Bigard MA, Gräsbeck R (1995) Decreased activity of intestinal and urinary intrinsic factor in Gräsbeck-Imerslund disease. Gastroenterology 108:1622–1628

  8. Imerslund O (1959, 1960) Idiopathic chronic megaloblastic anemia in children. Oslo University Press, Oslo 1959 and Acta Paediat 1960:49:Suppl 119; Summary of supplement = Acta Paediat 1960:49:208–209

  9. Kozyraki R, Kristiansen M, Silahtaroglu A, Hansen C, Jacobsen C, Tommerup N, Verroust PJ, Moestrup SK (1998) The human intrinsic factor — vitamin B12 receptor, cubilin: molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region. Blood 91:3593–3600

  10. Kristiansen M, Aminoff M, Jacobsen C, de la Chapelle A, Krahe R, Verroust PJ, Moestrup SK (2001) Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor — vitamin B(12) by cubilin. Blood 97:3316–3317

  11. Visakorpi JK, Furuhjelm U (1968) Selective malabsorption of vitamin B12. Mod Probl Pediatr 11:150–160

References for Spielmeyer-Sjögren disease

  1. Åberg LE, Bäckman M, Kirveskari E, Santavuori P (2000) Epilepsy and antiepileptic drug therapy in juvenile neuronal ceroid lipofuscinosis. Epilepsia 41:1296–1302

  2. Autti T, Raininko R, Vanhanen SL, Santavuori P (1996) Cranial MRI of 30 patients with juvenile neuronal ceroid lipofuscinosis. Neuroradiology 38:476–482

  3. von Bagh K, Hortling H (1948) Blodfynd vid juvenil amaurotisk idioti. Finska Läkaresällsk Handl 38:1072–1076

  4. Callen DF, Baker E, Lane S, Nancarrow J, Thompson A, Whitmore SA, MacLennan DH, Berger R, Cherif D, Järvelä I, Peltonen L, Sutherland GR, Gardiner RM (1991) Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12. Am J Hum Genet 49:1372–1377

  5. Gardiner RM, Sandford A, Deadman M, Poulton J, Reeders S, Jokiaho I, Peltonen L, Julier C (1990) Batten disease (Spielmeyer-Vogt; juvenile onset neuronal ceroid lipofuscinosis) maps to human chromosome 16. Genomics 8:387–390

  6. Järvelä I, Mitchison HM, Munroe PB, O´Rawe AM, Mole SE, Syvänen AC (1996) Rapid diagnostic test for the major mutation underlying Batten disease. J Med Genet 33:1041–1042

  7. Järvelä I, Sainio M, Rantamäki T, Olkkonen VM, Carpén O, Peltonen L, Jalanko A (1998) Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease. Hum Mol Genet 7:85–90

  8. Järvelä I, Lehtovirta M, Tikkanen R, Kyttälä A, Jalanko A (1999) Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL). Hum Mol Genet 8:1091–1098

  9. Lamminranta S, Åberg LE, Autti T, Moren R, Laine T, Kaukoranta J, Santavuori P (2001) Neuropsychological test battery in the follow-up of patients with juvenile neuronal ceroid lipofuscinosis. J Intellect Disabil Res 45:8–17

  10. Launes J, Heiskala H, Nikkinen P, Santavuori P (1996) Brain perfusion SPECT in juvenile neuronal ceroid lipofuscinosis. Neuropediatrics 27:84–87

  11. Lauronen L, Heikkilä E, Autti T, Sainio K, Huttunen J, Aronen HJ, Korvenoja A, Ilmoniemi RJ, Santavuori P (1997) Somatosensory evoked magnetic fields from primary sensorimotor cortex in juvenile neuronal ceroid lipofuscinosis. J Child Neurol 12:355–360

  12. Lauronen L, Munroe PB, Järvelä I, Autti T, Mitchison HM, O´Rawe AM, Gardiner RM, Mole SE, Puranen J, Häkkinen AM, Kirveskari E, Santavuori P (1999) Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis. Neurology 52:360–365

  13. Luiro K, Kopra O, Lehtovirta M, Jalanko A (2001) CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: new clues to Batten disease. Hum Mol Genet 10:2123–2131

  14. Munroe PB, Rapola J, Mitchison HM, Mustonen A, Mole SE, Gardiner RM, Järvelä I (1996) Prenatal diagnosis of Batten´s disease. Lancet 347:1014–1015

  15. Munroe PB, Mitchison HM, O´Rawe AM, Anderson JW, Boustany RM, Lerner TJ, Taschner PEM, de Vos N, Breuning MH, Gardiner RM, Mole SE (1997) Spectrum of mutations in the Batten disease gene. Am J Hum Genet 61:310–316

  16. The International Batten Disease Consortium (1995) Isolation of a novel gene underlying Batten disease, CLN3. Cell 82:949–957

  17. Stengel S (1826) Account of a singular illness among four siblings in the vicinity of Roraas. Eyr (Christiania) 1:347-352

  18. Vesa J, Peltonen L (2002) Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins. Curr Mol Med 2:439–444

References for tibial muscular dystrophy

  1. Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, Labeit S, Witt C, Peltonen L, Richard I, Udd B (2002) Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet 71:492–500

  2. Haravuori H, Mäkelä-Bengs P, Udd B, Partanen J, Pulkkinen L, Somer H, Peltonen L (1998) Assignment of the tibial muscular dystrophy locus to chromosome 2q31. Am J Hum Genet 62:620–626

  3. Haravuori H, Vihola A, Straub V, Auranen M, Richard I, Marchand S, Voit T, Labeit S, Somer H, Peltonen L, Beckmann JS, Udd B (2001) Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. Neurology 56:869–877

  4. Udd B (1992) Limb-girdle type muscular dystrophy in a large family with distal myopathy: homozygous manifestation of a dominant gene? J Med Genet 29:383–389

  5. Udd B, Kääriäinen H, Somer H (1991) Muscular dystrophy with separate clinical phenotypes in a large family. Muscle & Nerve 14:1050–1058

  6. Udd B, Partanen J, Halonen P, Falck B, Hakamies L, Heikkilä H, Ingo S, Kalimo H, Kääriäinen H, Laulumaa V, Paljärvi L, Rapola J, Reunanen M, Sonninen V, Somer H (1993) Tibial muscular dystrophy—late adult onset distal myopathy in 66 Finnish patients. Arch Neurol 50:604–608

References for Usher syndrome type 3

  1. Adato A, Vreugde S, Joensuu T, Avidan N, Hämäläinen R, Belenkiy O, Olender T, Bonne-Tamir B, Ben-Asher E, Espinos C, Millan JM, Lehesjoki AE, Flannery JG, Avraham KB, Pietrokowski S, Sankila EM, Beckmann JS, Lancet D (2002) Ush3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. Eur J Hum Genet 10:339–350

  2. Fields RR, Zhou G, Huang D, Davis JR, Moller C, Jacobson SG, Kimberling WJ, Sumegi J (2002) Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. Am J Hum Genet 71:607–617

  3. Gorlin RJ, Tilsner TJ, Feinstein S, Duvall AJ (1979) Usher's syndrome type III. Arch Otolaryngol 105:353–354

  4. von Graefe A (1858) Exceptionelles Verhalten des Gesichtsfeldes bei Pigmententartung der Netzhaut. Albrecht von Graefes Arch Ophthalmol 4:250–253

  5. Hallgren B (1959) Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases. A clinical and genetico-statistical study. Acta Psychiatr Neurol Scand 34: Suppl 138

  6. Joensuu T, Blanco G, Pakarinen L, Sistonen P, Kääriäinen H, Brown S, de la Chapelle A, Sankila EM (1996) Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region. Genomics 38:255–263

  7. Joensuu T, Hämäläinen R, Lehesjoki AE, de la Chapelle A, Sankila EM (2000) A sequence-ready map of the Usher syndrome type III critical region on chromosome 3q. Genomics 63:409–416

  8. Joensuu T, Hämäläinen R, Yuan B, Johnson C, Tegelberg S, Gasparini P, Zelante L, Pirvola U, Pakarinen L, Lehesjoki AE, de la Chapelle A, Sankila EM (2001) Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Am J Hum Genet 69:673–684

  9. Karjalainen S, Pakarinen L, Teräsvirta M, Kääriäinen H, Vartiainen E (1989) Progressive hearing loss in Usher's syndome. Ann Otol Rhinol Laryngol 98:863–866

  10. Lindenov H (1945) The aetiology of deaf-mutism with special reference to heredity. Thesis, Copenhagen, Opera ex Domo Univ. Hafniensis No 8

  11. Nuutila A (1968) Neuropsychiatric and genetic aspects of the dystrophia retinae pigmentosa-dysacusis syndrome. Thesis, University of Helsinki

  12. Nuutila A (1970) Dystrophia retinae pigmentosa-dysacusis syndrome (DRD): a study of the Usher- or Hallgren syndrome. J Génét Hum 18:57–88

  13. Pakarinen L, Sankila EM, Tuppurainen K, Karjalainen S, Kääriäinen H (1995) Usher syndrome type III (USH3): the clinical manifestations in 42 patients. Scand J Log Phon 20:141–150

  14. Pakarinen L, Tuppurainen K, Laippala P, Mäntyjärvi M, Puhakka H (1996) The ophthalmological course of Usher syndrome type III. Int Ophthalmol 19:307–311

  15. Sankila EM, Pakarinen L, Kääriäinen H, Aittomäki K, Karjalainen S, Sistonen P, de la Chapelle A (1995) Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. Hum Mol Genet 4:93–98

  16. Smith RJH, Berlin CI, Hejtmancik JF, Keats BJB, Kimberling WJ, Lewis RA, Möller CG, Pelias MSZ, Tranebjaerg L (1994) Clinical diagnosis of the Usher syndromes. Am J Med Genet 50:32–38

  17. Usher CH (1913–1914) On the inheritance of retinitis pigmentosa with notes of cases. Royal London Ophthalmol Hosp Rep 19:130–236

References for Vuopala disease

  1. Vuopala K, Herva R, Leisti J (1994) Lethal arthrogryposis in Finland — a clinicopathological study of 83 cases during thirteen years. Neuropediatrics 25:308–315

  2. Vuopala K, Ignatius J, Herva R (1995) Lethal arthrogryposis with anterior horn cell disease. Human Pathol 26:12–19

References for new candidates for the Finnish Disease Heritage

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  2. Koskela S, Javela K, Jouppila J, Juvonen E, Nyblom O, Partanen J, Kekomäki R (1999) Variant Bernard-Soulier syndrome due to homozygous Asn45Ser mutation in the platelet glycoprotein (GP) IX in eleven patients of five unrelated Finnish families. Eur J Haematol 62:256–264

  3. Pirinen S, Kentala A, Nieminen P, Varilo T, Thesleff I, Arte S (2001) Recessively inherited low incisor hypodontia. J Med Genet 38:551–556

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  7. Visakorpi JK (1972) Aminohappojen aineenvaihduntahäiriöt (Inborn errors of amino acid metabolism, English summary). Duodecim 88:72–85

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My warmest thanks to all the expert doctors for the patient data and for checking the manuscript on their respective section; to Markku Löytönen, Mari Markkanen-Leppänen and Publishing Company Otava for the figures; to Kari Markovaara, Jonna Mervelä, Taina Miikkulainen, Liisa Savolainen, and Leena Toivanen for their everlasting patience in different kinds of support, and to the Finnish Cultural Foundation for the grants.

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Correspondence to Reijo Norio.

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Norio, R. The Finnish disease heritage III: the individual diseases. Hum Genet 112, 470–526 (2003). https://doi.org/10.1007/s00439-002-0877-1

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