Skip to main content
SpringerLink
Log in
Book cover

Biopsy Diagnosis of Peripheral Neuropathy pp 429–468Cite as

Storage Diseases

  • Chapter
  • First Online:

  • 2216 Accesses

Abstract

Inborn errors of metabolism can manifest as multisystem diseases characterized by abnormal intracellular accumulation of storage material, the best known involving lysosomal enzymes. In a recent review, a less restrictive classification of lysosomal storage disorders has been proposed which includes diseases that display defects in cellular storage, synthetic enzymes, lysosome membrane or other membrane proteins, and trafficking. In the past, tissue examination for identification and characterization of storage material, including nerve biopsy, was an important means of diagnosis. However, advances in understanding of the biochemical and genetic basis of disease have revealed specific enzymatic and genetic defects in many of these conditions, and noninvasive diagnosis using genetic techniques, assays of enzyme activity in fluids or cultured cells, or detection of abnormal storage products has increasingly become the diagnostic method of choice. Nevertheless, atypical clinical manifestations or inaccessibility of advanced biochemical and genetic techniques occasionally make nerve biopsy useful in some patients, and for a small number of storage diseases, histologic examination remains essential.

This is a preview of subscription content, log in via an institution.

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   109.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   139.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD   219.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

References

  • Abe T, Ogawa K, Fuziwara H et al (1985) Spinal ganglia and peripheral nerves from a patient with Tay–Sachs disease. Acta Neuropathol 66:239–244

    CAS  PubMed  Google Scholar 

  • Alayoubi AM, Wang JCM, Au BC, Carpentier S et al (2013) Systemic ceramide accumulation leads to severe and varied pathological consequences. EMBO Mol Med 5:827–842

    CAS  PubMed Central  PubMed  Google Scholar 

  • Allen N, de Veyra E (1967) Microchemical and histochemical observations in a case of Krabbe’s leukodystrophy. J Neuropathol Exp Neurol 26:456–474

    CAS  Google Scholar 

  • Alves D, Pires MM, Guimaraes A, Miranda MC (1986) Four cases of late onset metachromatic leukodystrophy in a family: clinical, biochemical and neuropathological studies. J Neurol Neurosurg Psychiatry 49:1417–1422

    CAS  PubMed Central  PubMed  Google Scholar 

  • Anderson RA, Rao N, Burym RS et al (1993) In situ localization of the genetic locus encoding the lysosomal acid lipase/cholesteryl esterase (LIPA) deficient in Wolman disease to chromosome 10q23.2-23.3. Genomics 15:245–247

    CAS  PubMed  Google Scholar 

  • Antoine JC, Tommasi M, Boucheron S et al (1991) Pathology of roots, spinal cord and brainstem in syringomyelia-like syndrome of Tangier disease. J Neurol Sci 106:179–185

    CAS  PubMed  Google Scholar 

  • Anzil AP, Blinzinger K, Harzer K et al (1975) Cytosome morphology and distribution of generalized ceroid lipofuscinosis in a 28 month old boy with normal myeloperoxidase activity. Neuropadiatrie 6:259–283

    CAS  PubMed  Google Scholar 

  • Araoz C, Sun CN, Shenefelt R et al (1974) Glycogenosis type II (Pompe’s disease): ultrastructure of peripheral nerves. Neurology 24:739–742

    CAS  PubMed  Google Scholar 

  • Argov Z, Soffer D, Eisenberg S, Zimmerman Y (1986) Chronic demyelinating peripheral neuropathy in cerebrotendinous xanthomatosis. Ann Neurol 20:89–91

    CAS  PubMed  Google Scholar 

  • Argyrakis A, Pilz H, Goebel HH, Muller D (1977) Ultrastructural findings of peripheral nerve in a preclinical case of adult metachromatic leukodystrophy. J Neuropathol Exp Neurol 36:693–711

    CAS  PubMed  Google Scholar 

  • Askanas V, McLaughlin J, Engel WK, Adornato BT (1979) Abnormalities in culture muscle and peripheral nerve of a patient with adrenomyeloneuropathy. N Engl J Med 301:588–590

    CAS  PubMed  Google Scholar 

  • Assmann G, Schmitz G, Brewer HB Jr (1989) Familial high density lipoprotein deficiency: Tangier disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 1267–1282

    Google Scholar 

  • Aubourg P, Blanche S, Jambaque I et al (1990) Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation. N Engl J Med 322:1860–6186

    CAS  PubMed  Google Scholar 

  • Aubourg P, Adamsbaum C, Lavallard-Rousseau MC et al (1993) A two-year trial of oleic and erucic acids (“Lorenzo’s Oil”) as treatment for adrenomyeloneuropathy. N Engl J Med 329:745–752

    CAS  PubMed  Google Scholar 

  • Babel J, Bischoff A, Spoendlin H (1970) Ultrastructure of the peripheral nervous system and sense organs. CV Mosby Co., St. Louis, p 130

    Google Scholar 

  • Bardosi A, Friede RL, Ropte S, Goebel HH (1987) A morphometric study on sural nerves in metachromatic leukodystrophy. Brain 110:683–694

    PubMed  Google Scholar 

  • Beaudet AL, Thomas GH (1989) Disorders of glycoprotein degradation: mannosidosis, fucosidosis, sialidosis, and aspartylglucosaminuria. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw Hill, New York, pp 1611–1614

    Google Scholar 

  • Berkovic SF, Carpenter S, Andermann F et al (1988) Kufs’ disease: a critical reappraisal. Brain 111:27–62

    PubMed  Google Scholar 

  • Bernstein HS, Bishop DF, Astrin KH et al (1989) Fabry disease: six gene rearrangements and an exonic point mutation in the α-galactosidase gene. J Clin Invest 83:1390–1399

    CAS  PubMed Central  PubMed  Google Scholar 

  • Bersano A, Lanfranconi S, Valcarenghi C et al (2012) Neurological features of Fabry disease: clinical, pathophysiological aspects and therapy. Acta Neurol Scand 126:77–97

    CAS  PubMed  Google Scholar 

  • Biegstraaten M, Hollak CEM, Bakkers M et al (2012) Small fiber neuropathy in Fabry disease. Mol Genet Metab 106:135–141

    CAS  PubMed  Google Scholar 

  • Bischoff A (1979) The peripheral nerves. In: Johannsessen JV (ed) Electron microscopy in human medicine, vol 6. McGraw-Hill, New York

    Google Scholar 

  • Bischoff A, Ulrich J (1969) Peripheral neuropathy in globoid cell leukodystrophy (Krabbe’s disease): ultrastructural and histochemical findings. Brain 92:861–870

    CAS  PubMed  Google Scholar 

  • Bischoff A, Fierz U, Regli G et al (1968) Peripher–neurologische storungen bei der Fabryschen krankheit (Angiokeratoma corporis diffusum universale). Klinisch-elektronen-mikroskopische befunde bei einem fall. Klin Wochenschr 46:666–671

    CAS  PubMed  Google Scholar 

  • Bjorkhem I, Skrede S (1989) Familial disease with storage of sterols other than cholesterol: cerebrotendinous xanthomatosis and phytosterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 1283–1293

    Google Scholar 

  • Blatt-Lyon B (1975) Peripheral nerve involvement in Batten–Spielmeyer–Vogt’s disease. J Neurol Neurosurg Psychiatry 38:175–179

    Google Scholar 

  • Boustany R-MN (2013) Lysosomal storage diseases—the horizon expands. Nat Rev Neurol 9:583–598

    CAS  PubMed  Google Scholar 

  • Boustany RN, Kaye E, Alroy J (1990) Ultrastructural findings in skin from patients with Niemann–Pick disease, type C. Pediatr Neurol 6:177–183

    CAS  PubMed  Google Scholar 

  • Bowden KL, Bilbey NJ, Bilawchuk LM et al (2011) Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease. J Biol Chem 286:30624–30635

    CAS  PubMed Central  PubMed  Google Scholar 

  • Brady RO (1993) Fabry disease. In: Dyck PJ, Thomas PK et al (eds) Peripheral neuropathy, 3rd edn. WB Saunders, Philadelphia, pp 1169–1178

    Google Scholar 

  • Brown FR, Chen WW, Kirschner DA et al (1983) Myelin membrane from adrenoleukodystrophy brain white matter - biochemical properties. J Neurochem 41:341–348

    CAS  PubMed  Google Scholar 

  • Brunetti-Pierri N, Scaglia F (2008) GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. Mol Genet Metab 94:391–396

    CAS  PubMed  Google Scholar 

  • Burck U, Harzer K, Goebel HH (1979) The ultrastructural pathology of dermal axonal endings in lysosomal disease. J Neuropathol Exp Neurol 38:306, Abstract

    Google Scholar 

  • Burck U, Moser HW, Goebel HH et al (1985) A case of lipogranulomatosis Farber: some clinical and ultrastructural aspects. Eur J Pediatr 143:203–208

    CAS  PubMed  Google Scholar 

  • Byrd JC, Power JM (1979) Wolman’s disease: ultrastructural evidence of lipid accumulation in central and peripheral nervous systems. Acta Neuropathol 45:37–42

    PubMed  Google Scholar 

  • Cai Z, Blumbergs PC, Cash K et al (2006) Paranodal pathology in Tangier disease with remitting-relapsing multifocal neuropathy. J Clin Neurosci 13:492–497

    CAS  PubMed  Google Scholar 

  • Carpenter S, Karpati G, Andermann F (1972) Specific involvement of muscle, nerve, and skin in late infantile and juvenile amaurotic idiocy. Neurology 22:170–186

    CAS  PubMed  Google Scholar 

  • Carpenter S, Karpati G, Andermann F et al (1977) The ultrastructural characteristics of the abnormal cytosomes in Batten–Kuf’s disease. Brain 100:137–156

    PubMed  Google Scholar 

  • Cartier N, Hacein-Bey-Abina S, Bartholomae CC et al (2009) Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science 326:818–823

    CAS  PubMed  Google Scholar 

  • Case records of the Massachusetts General Hospital (1982) Case 5-1982. N Engl J Med 306:286-293

    Google Scholar 

  • Case records of the Massachusetts General Hospital (1984) Case 7-1984. N Engl J Med 310:445-455

    Google Scholar 

  • Chazot G, Sassolas G, Kopp N et al (1979) Adrenomyeloneuropathie: forme adulte d’adrenoleucodystrophie. Paraparesie spastique et insuffisance surrenale chronique, a propos de 3 cas. Rev Neurol 135:211–220

    CAS  PubMed  Google Scholar 

  • Chiricozzi E, Niemir N, Aureli M et al (2013) Chaperone therapy for GM2 gangliosidosis: effects of pyrimethamine on β-hexosaminidase activity in Sandhoff fibroblasts. Mol Neurobiol. doi:10.1007/s12035-013-8605-5

    PubMed  Google Scholar 

  • Clarke JTR, Skomorowski AM, Chang PL (1989) Marked clinical differences between two sibs affected with juvenile metachromatic leukodystrophy. Am J Med Genet 33:10–13

    CAS  PubMed  Google Scholar 

  • Cohadon F, Vital C, Loiseau P et al (1975) Leucodystrophie avec insufficiance surrenalienne (adrenoleucodystrophie): etude de trois case familiaux avec ultrastructure d’un case biopsie. Rev Neurol 131:407–418

    CAS  PubMed  Google Scholar 

  • Cotman SL, Karaa A, Staropoli JF et al (2013) Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum. Curr Neurol Neurosci Rep 13(8):366. doi:10.1007/s11910-013-0366-z

    PubMed Central  PubMed  Google Scholar 

  • Cravioto H, Obrien JS, Landing BH, Finck B (1966) Ultrastructure of peripheral nerve in metachromatic leucodystrophy. Acta Neuropathol 7:111–124

    Google Scholar 

  • Da Silva V, Vassella F, Bischoff A et al (1975) Niemann-Pick’s disease: clinical, biochemical and ultrastructural findings in a case of the infantile form. J Neurol 211:61–68

    PubMed  Google Scholar 

  • Dayan AD (1967) Peripheral neuropathy of metachromatic leukodystrophy: observations on segmental demyelination and remyelination and the intracellular distribution of sulphatide. J Neurol Neurosurg Psychiatry 30:311–318

    CAS  PubMed Central  PubMed  Google Scholar 

  • de Martin JJ, Barsy T, den Tandt WR (1976) Acid maltase deficiency in non-identical adult twins. J Neurol 213:105–118

    CAS  PubMed  Google Scholar 

  • Desnick RJ, Bishop DF (1989) Fabry disease: α-galactosidase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw Hill, New York, p 1759

    Google Scholar 

  • Dolman CL, MacLeod PM, Chang E (1975) Skin punch biopsies and lymphocytes in the diagnosis of lipidoses. Can J Neurol Sci 2:67–73

    CAS  PubMed  Google Scholar 

  • Dolman CL, MacLeod PM, Chang E (1977) Fine structure of cutaneous nerves in ganglioside storage. J Neurol Neurosurg Psychiatry 40:588–594

    CAS  PubMed Central  PubMed  Google Scholar 

  • Dom R, Brucher JM, Ceuterick C et al (1979) Adult ceroid-lipofuscinosis (Kufs’ disease) in two brothers. Retinal and visceral storage in one diagnostic muscle biopsy in the other. Acta Neuropathol 45:67–72

    CAS  PubMed  Google Scholar 

  • Donaghy M, King RHM, McKeran RO et al (1990) Cerebrotendinous xanthomatosis: clinical, electrophysiological and nerve biopsy findings, and response to treatment with chenodeoxycholic acid. J Neurol 237:216–219

    CAS  PubMed  Google Scholar 

  • Du H, Duanmu M, Witte D et al (1998) Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage. Hum Mol Genet 7:1347–1354

    CAS  PubMed  Google Scholar 

  • Du H, Schiavi S, Levine M et al (2001) Enzyme therapy for lysosomal acid lipase deficiency in the mouse. Hum Mol Genet 10:1639–1648

    CAS  PubMed  Google Scholar 

  • Du H, Heur M, Witte DP et al (2002) Lysosomal acid lipase deficiency: correction of lipid storage by adenovirus-mediated gene transfer in mice. Hum Gene Ther 13:1361–1372

    CAS  PubMed  Google Scholar 

  • Dubois G, Mussini JM, Auclair M et al (1990) Adult sphingomyelinase deficiency: report of 2 patients who initially presented with psychiatric disorders. Neurology 40:132–136

    CAS  PubMed  Google Scholar 

  • Dunn HG, Lake BD, Dolman DL, Wilson J (1969) The neuropathy of Krabbe’s infantile cerebral sclerosis (globoid cell leukodystrophy). Brain 92:329–344

    CAS  PubMed  Google Scholar 

  • Dupree JL, Mason JL, Marcus JR et al (2005) Oligodendrocytes assist in the maintenance of sodium channel clusters independent of the myelin sheath. Neuron Glia Biol 1:1–14, Pubmed

    Google Scholar 

  • Dyck PJ, Ellefson RD, Yao JK et al (1978) Adult-onset of Tangier disease. I. Morphometric and pathologic studies suggesting delayed degradation of neutral lipids after fiber degeneration. J Neuropathol Exp Neurol 37:119–137

    CAS  PubMed  Google Scholar 

  • Eckhardt M (2008) The role and metabolism of sulfatide in the nervous system. Mol Neurobiol 37:93–103

    CAS  PubMed  Google Scholar 

  • Ehlert K, Frosch M, Fehse N et al (2007) Farber disease: clinical presentation, pathogenesis and a new approach to treatment. Pediatr Rheumatol Online J 5:15. doi:10.1186/1546-0096-5-15, PMCID: PMC1920510

    PubMed Central  PubMed  Google Scholar 

  • Elleder M (1989) Niemann–Pick disease. Pathol Res Pract 185:293–328

    CAS  PubMed  Google Scholar 

  • Elleder M, Nevoral J, Spicakova V et al (1986) A new variant of sphingomyelinase deficiency (Niemann–Pick): visceromegaly, minimal neurological lesions, and low in vivo degradation rate of sphingomyelin. J Inherit Metab Dis 9:357–366

    CAS  PubMed  Google Scholar 

  • Engel WK, Dorman JD, Levy RI et al (1967) Neuropathy in Tangier disease: alpha-lipoprotein deficiency manifesting as familial recurrent neuropathy and intestinal lipid storage. Arch Neurol 17:1–9

    CAS  PubMed  Google Scholar 

  • Fasano T, Pisciotta L, Bocchi L (2012) Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease. Mol Genet Metab 105:450–456

    CAS  PubMed  Google Scholar 

  • Faust PL, Edward M, Kaye EM, Powers JM (2010) Myelin lesions associated with lysosomal and peroxisomal disorders. Expert Rev Neurother 10:1449–1466

    PubMed  Google Scholar 

  • Fazio R, Nemni R, Quattrini A et al (1993) Acute presentation of Tangier polyneuropathy: a clinical and morphological study. Acta Neuropathol 86:90–94

    CAS  PubMed  Google Scholar 

  • Federico A, Ciacci G, D’Amore I et al (1986) GM2 gangliosidosis with hexosaminidase A and B defect: report of a family with motor neuron disease-like phenotype. J Inherit Metab Dis 9(suppl 2):307–310

    Google Scholar 

  • Federico A, Palmeri S, Malandrini A et al (1991a) The clinical aspects of adult hexosaminidase deficiencies. Dev Neurosci 13:280–287

    CAS  PubMed  Google Scholar 

  • Federico A, Battistini S, Ciacci G et al (1991b) Cherry red spot myoclonus syndrome (type I sialidosis). Dev Neurosci 13:320–326

    CAS  PubMed  Google Scholar 

  • Fluharty AL (2006) Arylsulfatase A deficiency. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K (eds) GeneReviews™ [Internet]. Seattle: University of Washington; 1993–2014. 2006 May 30 [updated 2014 Feb 06]

    Google Scholar 

  • Fressinaud C, Vallat JM, Masson M et al (1992) Adult onset metachromatic leukodystrophy presenting as isolated peripheral neuropathy. Neurology 42:1396–1398

    CAS  PubMed  Google Scholar 

  • Fujiwaki T, Hamanaka S, Koga M et al (1992) A case of Farber disease. Acta Paediatr Jpn 34:72–79

    CAS  PubMed  Google Scholar 

  • Fukuhara N, Suzuki M, Fujita N, Tsubaki T (1975) Fabry’s disease. On the mechanism of the peripheral nerve involvement. Acta Neuropathol 33:9–21

    CAS  PubMed  Google Scholar 

  • Gallus GN, Dotti MT, Federico A et al (2006) Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene. J Neurol Sci 27:143–149

    CAS  Google Scholar 

  • Gastaut JL, Pellisier JF, Pfister B et al (1988) Adrenoleucomyeloneuropathie. Un cas familial. Rev Neurol 144:338–346

    CAS  PubMed  Google Scholar 

  • Gemignami F, Marbini A, Bragaglia MM, Govoni E (1984) Pathological study of the sural nerve in Fabry’s disease. Eur Neurol 23:173–181

    Google Scholar 

  • Ghatak NR, Nochlin D, Peris M, Myer EC (1983) Morphology and distribution of cytoplasmic inclusions in adrenoleukodystrophy. J Neurol Sci 50:391–398

    Google Scholar 

  • Gibbels E, Schaefer HE, Runne U et al (1985) Severe polyneuropathy in Tangier disease mimicking syringomyelia or leprosy. Clinical, biochemical, electrophysiological, and morphological evaluation, including electron microscopy of nerve, muscle, and skin biopsies. J Neurol 232:283–294

    CAS  PubMed  Google Scholar 

  • Gieselmann V, Polten A, Kreysing J et al (1991) Molecular genetics of metachromatic leukodystrophy. Dev Neurosci 13:222–227

    CAS  PubMed  Google Scholar 

  • Goebel HH (1995) The neuronal ceroid-lipofuscinoses. J Child Neurol 10:424–437

    CAS  PubMed  Google Scholar 

  • Goebel HH, Braak H (1989) Adult neuronal ceroid-lipofuscinosis. Clin Neuropathol 8:109–119

    CAS  PubMed  Google Scholar 

  • Goebel HH, Müller HD (2013) Storage diseases: diagnostic position. Ultrastruct Pathol 37:19–22

    PubMed  Google Scholar 

  • Goebel HH, Zeman W, Pilz H (1976) Ultrastructural investigations of peripheral nerves in neuronal ceroid–lipofuscinoses (NCL). J Neurol 213:295–303

    CAS  PubMed  Google Scholar 

  • Goebel HH, Lenard GH, Kohlschutter A, Pilz H (1977) The ultrastructure of the sural nerve in Pompe’s disease. Ann Neurol 2:111–115

    Google Scholar 

  • Goebel HH, Ikeda K, Schulz F et al (1981) Fingerprint profiles in lymphocytic vacuoles of mucopolysaccharidoses I-H, II, III-A, and III-B. Acta Neuropathol 55:247–249

    CAS  PubMed  Google Scholar 

  • Goebel HH, Harzer K, Ernst JP et al (1990) Late-onset globoid cell leukodystrophy: unusual ultrastructural pathology and subtotal beta-galactocerebrosidase deficiency. J Child Neurol 5:299–307

    CAS  PubMed  Google Scholar 

  • Gregoire A, Perier O, Dustin P Jr (1966) Metachromatic leukodystrophy, an electron microscopic study. J Neuropathol Exp Neurol 25:617–636

    CAS  PubMed  Google Scholar 

  • Griffin JW, Goren E, Shcaumburg HH et al (1977) Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy I. Clinical and endocrinologic aspects. Neurology 27:1107–1113

    CAS  PubMed  Google Scholar 

  • Griffin DE, Moser HW, Mendoza Q et al (1985) Identification of the inflammatory cells in the central nervous system of patients with adrenoleukodystrophy. Ann Neurol 18:660–664

    CAS  PubMed  Google Scholar 

  • Guazzi GC, Martin JJ, Philippart M et al (1968) Wolman’s disease. Eur Neurol 1:334–362

    CAS  PubMed  Google Scholar 

  • Gumbinas M, Larsen M, Lin HM (1975) Peripheral neuropathy in classic Niemann–Pick disease: ultrastructure of nerves and skeletal muscles. Neurology 25:107–113

    CAS  PubMed  Google Scholar 

  • Haberland C, Brumgraber E, Witting L, Daniels A (1973) Juvenile metachromatic leukodystrophy. Acta Neuropathol 26:93–106

    CAS  PubMed  Google Scholar 

  • Hagberg B (1984) Krabbe’s disease: clinical presentation of neurological variants. Neuropediatrics 15(suppl):11–15

    PubMed  Google Scholar 

  • Hahn AF, Gordon BA, Gilbert JJ, Hinton GG (1981) The AB variant of metachromatic leukodystrophy (postulated activator protein deficiency): light and electron microscopic findings in a sural nerve biopsy. Acta Neuropathol 55:281–287

    CAS  PubMed  Google Scholar 

  • Hahn AF, Gilberg JJ, Kwarciak C et al (1994) Nerve biopsy findings in Niemann–Pick type II (NPC). Acta Neuropathol 87:149–154

    CAS  PubMed  Google Scholar 

  • Hall NA, Lake BD, Patrick AD (1991) Recent biochemical and genetic advances in our understanding of Batten’s disease (ceroid-lipofuscinosis). Dev Neurosci 13:339–344

    CAS  PubMed  Google Scholar 

  • Haltia M, Goebel HH (2013) The neuronal ceroid-lipofuscinoses: a historical introduction. Biochim Biophys Acta 1832:1795–1800

    CAS  PubMed  Google Scholar 

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

    CAS  PubMed  Google Scholar 

  • Haltia T, Palo J, Haltia M, Icen A (1980) Juvenile metachromatic leukodystrophy: clinical, biochemical, and neuropathologic studies in nine new cases. Arch Neurol 37:42–46

    CAS  PubMed  Google Scholar 

  • Hashimoto K, Gross BG, Lever WF (1965) Angiokeratoma corporis diffusum (Fabry). Histochemical and electron microscopic studies of the skin. J Invest Dermatol 44:119–126

    CAS  PubMed  Google Scholar 

  • Hayashi A, Nakashima K, Yamagishi K et al (2007) Localization of annexin II in the paranodal regions and Schmidt–Lanterman incisures in the peripheral nervous system. Glia 55:1044–1052

    PubMed  Google Scholar 

  • Hedley-Whyte ET, Boustany RM, Riskind P et al (1988) Peripheral neuropathy due to galactosylceramide β-galactosidase deficiency (Krabbe’s disease) in a 73 year old woman. Neuropathol Appl Neurobiol 14:515–516

    Google Scholar 

  • Hilz MJ, Brys M, Marthol H et al (2004) Enzyme replacement therapy improves function of C-, Ad, and Ab-nerve fibers in Fabry neuropathy. Neurology 62:1066–1072

    CAS  PubMed  Google Scholar 

  • Hogan GR, Gutmann L, Chou SM (1969) The peripheral neuropathy of Krabbe’s (globoid) leukodystrophy. Neurology 19:1094–1100

    CAS  PubMed  Google Scholar 

  • Hohenschutz C, Eich P, Friedl W et al (1989) Pseudodeficiency of arylsulfatase A: a common genetic polymorphism with possible disease implications. Hum Genet 82:45–48

    CAS  PubMed  Google Scholar 

  • Hoshi T, Suzuki A, Hayashi S et al (2007) Nodal protrusions, increased Schmidt–Lanterman incisures, and paranodal disorganization are characteristic features of sulfatide-deficient peripheral nerves. Glia 55:584–594

    PubMed  Google Scholar 

  • Iannaccone S, Nemni R, Fazio R et al (1993) Polyneuropathy with antibodies to sulphatide and decreased level of arylsulphatase A. J Neurol 240:260–261

    CAS  PubMed  Google Scholar 

  • Iatan I, Palmyre A, Alrasheed S (2012) Genetics of cholesterol efflux. Curr Atheroscler Rep 14:235–246

    CAS  PubMed  Google Scholar 

  • Mendelian Inheritance in Man, OMIM (TM) Baltimore, MD: McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University, Bethesda: National Center for Biotechnology Information, National Library of Medicine. 2000. Online: http://www.ncbi.nlm.nih.gov/omim/

  • Jalanko A, Braulke T (2009) Neuronal ceroid lipofuscinoses. Biochim Biophys Acta 1793:697–709

    CAS  PubMed  Google Scholar 

  • Jang J, Kang HC, Kim HS et al (2011) Induced pluripotent stem cell models from X-linked adrenoleukodystrophy patients. Ann Neurol 70:402–409

    PubMed  Google Scholar 

  • Jarvela I, Vesa J, Santavuori P et al (1992) Molecular genetics of neuronal ceroid lipofuscinoses. Pediatr Res 32:645–648

    CAS  PubMed  Google Scholar 

  • Jellinger K, Paulus W, Grisold W, Paschke E (1990) New phenotype of adult alpha-L-iduronidase deficiency (mucopolysaccharidosis I) masquerading as Friedreich’s ataxia with cardiopathy. Clin Neuropathol 9:163–169

    CAS  PubMed  Google Scholar 

  • Joosten E, Gabreels F, Stanhouders A et al (1973) Involvement of sural nerve in neuronal ceroid-lipofuscinoses: report of two cases. Neuropadiatrie 4:98–110

    CAS  PubMed  Google Scholar 

  • Josephson SA, Schmidt RE, Millsap P et al (2001) Autosomal dominant Kuf’s disease: a cause of early-onset dementia. J Neurol Sci 188:51–60

    CAS  PubMed  Google Scholar 

  • Julien J, Vallat JM, Vital C et al (1981) Adrenomyeloneuropathy: demonstration of inclusions at the level of the peripheral nerve. Eur Neurol 20:367–373

    CAS  PubMed  Google Scholar 

  • Kagitani-Shimono K, Mohri I, Yagi T (2008) Peripheral neuropathy in the twitcher mouse: accumulation of extracellular matrix in the endoneurium and aberrant expression of ion channels. Acta Neuropathol 115:577–587

    CAS  PubMed  Google Scholar 

  • Kappler J, Watts RW, Conzelmann E et al (1991) Low arylsulphatase A activity and choreoathetotic syndrome in three siblings: differentiation of pseudodeficiency from metachromatic leukodystrophy. Eur J Pediatr 150:287–290

    CAS  PubMed  Google Scholar 

  • Karpati G, Carpenter S, Eisen AA et al (1974) Multiple peripheral nerve entrapments: an unusual phenotypic variant of the Hunter syndrome (Mucopolysaccharidosis II) in a family. Arch Neurol 31:418–422

    CAS  PubMed  Google Scholar 

  • Keren Z, Falik-Zaccai TC (2009) Cerebrotendinous xanthomatosis (CTX): a treatable lipid storage disease. Pediatr Endocrinol Rev 7:6–11

    PubMed  Google Scholar 

  • Kocen RS, Thomas PK (1970) Peripheral nerve involvement in Fabry’s disease. Arch Neurol 22:81–88

    CAS  PubMed  Google Scholar 

  • Kocen RS, King RH, Thomas PK, Haas LF (1973) Nerve biopsy findings in two cases of Tangier disease. Acta Neuropathol 26:317–327

    CAS  PubMed  Google Scholar 

  • Kolodny EH, Raghaan S, Krivit W (1991) Late onset Krabbe disease (globoid cell leukodystrophy): clinical and biochemical features. Dev Neurosci 13:232–239

    CAS  PubMed  Google Scholar 

  • Kristensson K, Olsson Y, Sourander P (1967) Peripheral nerve changes in Tay–Sachs and Batten–Spielmeyer–Vogt disease. Acta Pathol Microbiol Scand A 70:630–632

    CAS  Google Scholar 

  • Kumamoto T, Fukuhara N, Ohno T et al (1985) Morphological studies of peripheral nerves and skeletal muscles of an adult case with adrenoleukomyeloneuropathy. Eur Neurol 24:229–236

    CAS  PubMed  Google Scholar 

  • Kuritsky A, Berginer VM, Korczyn AD (1979) Peripheral neuropathy in cerebrotendinous xanthomatosis. Neurology 29:880–881

    Google Scholar 

  • Lake BD (1968) Segmental demyelination of peripheral nerves in Krabbe’s disease. Nature 217:171–172

    CAS  PubMed  Google Scholar 

  • Landrieu P, Said G (1984) Peripheral neuropathy in type A Niemann–Pick disease. Acta Neuropathol 63:66–71

    CAS  PubMed  Google Scholar 

  • Leitersdorf E, Reshef A, Meiner V et al (1993) Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews of Moroccan origin. J Clin Invest 91:2488–2496

    CAS  PubMed Central  PubMed  Google Scholar 

  • Lemansky P, Bishop DF, Desnick RJ et al (1987) Synthesis and processing of α-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease. J Biol Chem 262:2062–2065

    CAS  PubMed  Google Scholar 

  • Liu B, Ramirez CM, Miller AM et al (2010) Cyclodextrin overcomes the transport defect in nearly every organ of NPC1 mice leading to excretion of sequestered cholesterol as bile acid. J Lipid Res 51:933–944

    CAS  PubMed Central  PubMed  Google Scholar 

  • Luijten JAFM, Straks W, Blikkendaal-Lieftinck LF et al (1978) Metachromatic leukodystrophy – a comparative study of the ultrastructural findings in the peripheral nervous system in three cases, one of the late infantile, one of the juvenile, and one of the adult form of the disease. Neuropadiatrie 9:338–350

    CAS  PubMed  Google Scholar 

  • Lyon G, Hagberg B, Evrard P et al (1991) Symptomatology of late onset Krabbe’s leukodystrophy: the European experience. Dev Neurosci 13:240–244

    CAS  PubMed  Google Scholar 

  • Marbini A, Gemignani F, Ferrarini G et al (1985) Tangier disease. A case with sensorimotor distal polyneuropathy and lipid accumulation in striated muscle and vasa nervorum. Acta Neuropathol 67:121–127

    CAS  PubMed  Google Scholar 

  • Martin JJ (1991) Adult type of neuronal ceroid lipofuscinosis. Dev Neurosci 13:331–338

    CAS  PubMed  Google Scholar 

  • Martin JJ, Ceuterick G, Martin L et al (1974) Leucodystrophie a cellules globoides (maladie de Krabbe). Lesions nerveuses peripheriques. Acta Neurol Belg 74:356–375

    CAS  PubMed  Google Scholar 

  • Martin JJ, Leroy JG, Farriaux JP et al (1975) I-cell disease (mucolipidosis II): a report on its pathology. Acta Neuropathol 33:285–305

    CAS  PubMed  Google Scholar 

  • Martin JJ, Ceuterick C, Van Dessel G et al (1979) Two cases of mucopolysaccharidosis type III (Sanfilippo). Acta Neuropathol 46:185–190

    CAS  PubMed  Google Scholar 

  • Martin JJ, Leroy JG, Ceuterick C et al (1981) Fetal Krabbe leukodystrophy: a morphologic study of two cases. Acta Neuropathol 53:87–91

    CAS  PubMed  Google Scholar 

  • Martin JJ, Ceuterick C, Mercelis R, Joris C (1982a) Pathology of peripheral nerves in metachromatic leucodystrophy: a comparative study of ten cases. J Neurol Sci 53:95–112

    CAS  PubMed  Google Scholar 

  • Martin JJ, Lowelthal A, Ceuterick C, Gacoms H (1982b) Adrenomyeloneuropathy: a report on two families. J Neurol 226:221–232

    CAS  PubMed  Google Scholar 

  • Matsuda J, Suzuki O, Oshima A et al (2003) Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis. Proc Natl Acad Sci U S A 100:15912–15917

    CAS  PubMed Central  PubMed  Google Scholar 

  • McGovern MM, Desnick RJ (2011) Lipidoses (lysosomal storage diseases). In: St. Geme JW III, Schor NF, Behrman RE (eds) Nelson textbook of pediatrics, 19th edn. Saunders Elsevier, Philadelphia, chapter 80.4

    Google Scholar 

  • Meier C, Bischoff A (1976) A sequence of morphological alterations in the nervous system of metachromatic leucodystrophy: light- and electron microscopic observations in the central and peripheral nervous system in a prenatally diagnosed foetus of 22-weeks. Acta Neuropathol 36:369–379

    CAS  PubMed  Google Scholar 

  • Meiner V, Meiner Z, Reshef A et al (1994) Cerebrotendinous xanthomatosis: molecular diagnosis enables presymptomatic detection of a treatable disease. Neurology 44:288–290

    CAS  PubMed  Google Scholar 

  • Miranda CO, Brites P, Sousa MM, Teixeira CA et al (2013) Advances and pitfalls of cell therapy in metabolic leukodystrophies. Cell Transplant 22:189–204

    PubMed  Google Scholar 

  • Mito T, Takada K, Akaboshi S et al (1989) A pathological study of a peripheral nerve in a case of neonatal adrenoleukodystrophy. Acta Neuropathol 77:437–440

    CAS  PubMed  Google Scholar 

  • Mitsumoto H, Sliman RJ, Shafer IA et al (1985) Motor neuron disease and adult hexosaminidase A deficiency in two families: evidence for multisystem degeneration. Ann Neurol 17:378–385

    CAS  PubMed  Google Scholar 

  • Mitsuo K, Nakano T, Kobayashi T et al (1990) Juvenile Sandhoff disease: a Japanese patient carrying a mutation identical to that found earlier in a Canadian patient. J Neurol Sci 98:277–286

    CAS  PubMed  Google Scholar 

  • Miyatake T, Atsumi T, Obayashi T et al (1979) Adult type neuronal storage disease with neuraminidase deficiency. Ann Neurol 6:232–244

    CAS  PubMed  Google Scholar 

  • Mole S, Williams R, Goebel H (eds) (2011) The neuronal ceroid lipofuscinoses (Batten disease), 2nd edn, Contemporary neurology series. Oxford University Press, Oxford

    Google Scholar 

  • Morgan SH, Rudge P, Smith SJ et al (1990) The neurological complications of Anderson-Fabry disease (alpha galactosidase A deficiency) – investigation of symptomatic and presymptomatic patients. Q J Med 75:491–507

    CAS  PubMed  Google Scholar 

  • Moser HW (1985) Leukoencephalopathies caused by metabolic disorders. In: Koetsier JC (ed) Demyelinating diseases, vol 3, Handbook of clinical neurology. Elsevier, Amsterdam, pp 583–604

    Google Scholar 

  • Moser HW, Moser AB (1989) Adrenoleukodystrophy (X-linked). In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 1511–1532

    Google Scholar 

  • Moser HW, Moser AE, Singh I, O’Niell BP (1984) Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis and therapy. Ann Neurol 16:628–641

    CAS  PubMed  Google Scholar 

  • Moser HW, Moser AB, Chen WW, Schram AW (1989) Ceramidase deficiency: Farber lipogranulomatosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw Hill, New York, pp 1645–1654

    Google Scholar 

  • Moser HW, Moser AB, Smith KD et al (1992) Adrenoleukodystrophy: phenotypic variability and implications for therapy. J Inherit Metab Dis 15:645–664

    CAS  PubMed  Google Scholar 

  • Mosser J, Douar AM, Sarde CO et al (1993) Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 361:726–730

    CAS  PubMed  Google Scholar 

  • Neufeld EF, Meunzer J (1989) The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 1565–1587

    Google Scholar 

  • O’Brien JS, Bernett J, Veath ML et al (1975) Lysosomal storage disorders: diagnosis by ultrastructural examination of skin biopsy specimens. Arch Neurol 32:592–599

    PubMed  Google Scholar 

  • Ohnishi A, Dyck PJ (1974) Loss of small peripheral sensory neurons in Fabry disease. Arch Neurol 31:120–127

    Google Scholar 

  • Ohnishi A, Yamashita Y, Goto I et al (1979) De- and remyelination and onion bulb in cerebrotendinous xanthomatosis. Acta Neuropathol 45:43–45

    CAS  PubMed  Google Scholar 

  • Olsson Y, Sourander P (1969) The reliability of the diagnosis of metachromatic leukodystrophy by peripheral nerve biopsy. Acta Paediatr Scand 58:15–24

    CAS  PubMed  Google Scholar 

  • Olsson R, Sourander P, Svennerholm L (1966) Experimental studies on the pathogenesis of leucodystrophies. I. The effect of intracerebrally injected sphingolipids in the rat brain. Acta Neuropathol 6(2):153–163

    CAS  PubMed  Google Scholar 

  • Oram JF (2000) Tangier disease and ABCA1. Biochim Biophys Acta 1529:321–330

    CAS  PubMed  Google Scholar 

  • Pages M, Pages AM (1985) Adrenomyeloneuropathy. Morphometric and ultrastructural study of the peripheral nerves. Ann Pathol 5:205–207

    CAS  PubMed  Google Scholar 

  • Patil SA, Maegawal GHB (2013) Developing therapeutic approaches for metachromatic leukodystrophy. Drug Des Devel Ther 7:729–745

    PubMed Central  PubMed  Google Scholar 

  • Pellissier JF, de Barsy T, Faugere MC et al (1979) Type III glycogenosis with multicore structures. Muscle Nerve 2:124–132

    CAS  PubMed  Google Scholar 

  • Pellissier JF, Bourdet Bonerandi D, Monier Faugere MC et al (1981) Morphological and biochemical changes in muscle and peripheral nerve in Fabry’s disease. Muscle Nerve 4:381–387

    CAS  PubMed  Google Scholar 

  • Pellissier JF, Berard Badier M, Pinsard N (1986) Farber’s disease in two siblings, sural nerve and subcutaneous biopsy by light and electron microscopy. Acta Neuropathol 72:178–188

    CAS  PubMed  Google Scholar 

  • Penzien JM, Kappler J, Herschokitz N et al (1993) Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease. Am J Hum Genet 52:557–564

    CAS  PubMed Central  PubMed  Google Scholar 

  • Percy AK, Kaback MM, Herndon RM (1977) Metachromatic leukodystrophy: comparison of early and late-onset forms. Neurology 27:933–941

    CAS  PubMed  Google Scholar 

  • Perez-Poyato MS, Pineda M (2011) New agents and approaches to treatment in Niemann-Pick type C disease. Curr Pharm Biotechnol 12:897–901

    CAS  PubMed  Google Scholar 

  • Perrelet A, Forssmann WG, Franceschetti AT, Rouiller C (1969) A study of Fabry’s disease. Light and electron microscopy. Dermatologica 138:222–237

    CAS  PubMed  Google Scholar 

  • Pierret C, Morrison JA, Kirk MD (2008) Treatment of lysosomal storage disorders: focus on the neuronal ceroid-lipofuscinoses. Acta Neurobiol Exp 68:429–442

    Google Scholar 

  • Pietrini V, Rizzuto N, Vergani C et al (1985) Neuropathy in Tangier disease. Acta Neurol Scand 72:495–505

    CAS  PubMed  Google Scholar 

  • Pilo B, De Blas G, Sobrido MJ (2011) Neurophysiological study in cerebrotendinous xanthomatosis. Muscle Nerve 43:531–536

    CAS  PubMed  Google Scholar 

  • Pollock M, Nukada H, Frith RW et al (1983) Peripheral neuropathy in Tangier disease. Brain 106:911–928

    PubMed  Google Scholar 

  • Polten A, Fluharty AL, Fluharty CB et al (1991) Molecular basis of different forms of metachromatic leukodystrophy. N Engl J Med 324:18–22

    CAS  PubMed  Google Scholar 

  • Pop PHM, Joosten E, Van Spreeken A et al (1984) Neuroaxonal pathology of central and peripheral nervous systems in cerebrotendinous xanthomatosis (CTX). Acta Neuropathol 64:259–264

    CAS  PubMed  Google Scholar 

  • Powell HC, Haas R, Hall CL et al (1985) Peripheral nerve involvement in type III glycogenosis: selective involvement of unmyelinated fiber Schwann cells. Muscle Nerve 8:667–671

    CAS  PubMed  Google Scholar 

  • Rauch JH, Aubock L (1983) “Banana bodies” in disseminated lipogranulomatosis (Farber’s disease). Am J Dermatopathol 5:263–266

    CAS  PubMed  Google Scholar 

  • Reynolds T (2013) Cholesteryl ester storage disease: a rare and possibly treatable cause of premature vascular disease and cirrhosis. J Clin Pathol 66:918–923

    CAS  PubMed  Google Scholar 

  • Rust S, Rosier M, Funke H et al (1999) Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nat Genet 22:352–355

    CAS  PubMed  Google Scholar 

  • Rutsaert J, Menu R, Resibois A (1973) Ultrastructure of sulfatide storage in normal and sulfatase-deficient fibroblasts in vitro. Lab Invest 29:527–535

    CAS  PubMed  Google Scholar 

  • Sakai N (2009) Pathogenesis of leukodystrophy for Krabbe disease: molecular mechanism and clinical treatment. Brain Dev 31:485–487

    PubMed  Google Scholar 

  • Salen G, Shefer S, Berginer V (1991) Biochemical abnormalities in cerebrotendinous xanthomatosis. Dev Neurosci 13:363–370

    CAS  PubMed  Google Scholar 

  • Sancho S, Navarro C, Fernandes JM et al (1990) Skin biopsy findings in glycogenosis III: clinical, biochemical, and electrophysiological correlations. Ann Neurol 27:480–486

    CAS  PubMed  Google Scholar 

  • Satoh T, Suzuki H, Monma N et al (1988) Metachromatic leukodystrophy. Report of siblings with the juvenile type of metachromatic leukodystrophy. Acta Pathol Jpn 38:1041–1051

    CAS  PubMed  Google Scholar 

  • Schaumburg HH, Powers JM, Raine CS et al (1975) Adrenoleukodystrophy. A clinical and pathological study of 17 cases. Arch Neurol 32:577–591

    CAS  PubMed  Google Scholar 

  • Schaumburg H, Powers JM, Raine CS (1977) Adrenomyeloneuropathy: a probable variant of ALD: II. General pathological, neuropathological, and biochemical studies. Neurology 27:1114–1119

    CAS  PubMed  Google Scholar 

  • Schiffmann R (2006) Neuropathy and Fabry disease: pathogenesis and enzyme replacement therapy. Acta Neurol Belg 106:61–65

    PubMed  Google Scholar 

  • Schiffmann R, Hauer P, Freeman B et al (2006) Enzyme replacement therapy and intraepidermal innervation density in Fabry disease. Muscle Nerve 34:53–56

    CAS  PubMed  Google Scholar 

  • Schlaepfer WW, Prensky AL (1972) Quantitative and qualitative study of sural nerve biopsies in Krabbe’s disease. Acta Neuropathol 20:55–66

    CAS  PubMed  Google Scholar 

  • Schmalbruch H, Stender S, Boysen G (1987) Abnormalities in spinal neurons and dorsal root ganglion cells in Tangier disease presenting with a syringomyelia-like syndrome. J Neuropathol Exp Neurol 46:533–543

    CAS  PubMed  Google Scholar 

  • Schmitt HP (1981) Changes in the voluntary muscles and the peripheral nerves in an autopsy case of MPS type II (Hunter). Neuropediatrics 12:83–91

    CAS  PubMed  Google Scholar 

  • Schmitt HP, Volk B, Berlet H (1979) Peripheral intraaxonal storage in Tay–Sachs’ disease (GM2 gangliosidosis type 1). J Neurol Sci 44:115–124

    CAS  PubMed  Google Scholar 

  • Schmoeckel C, Hohlfed M (1979) A specific ultrastructural marker for disseminated lipogranulomatosis (Farber). Arch Dermatol Res 266:187–196

    CAS  PubMed  Google Scholar 

  • Schochet SS, McCormick WF, Powell GF (1976) Krabbe’s disease. A light and electron microscopic study. Acta Neuropathol 36:153–160

    PubMed  Google Scholar 

  • Schroder JM, May R, Shin YS et al (1993) Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis). Acta Neuropathol 85:419–430

    CAS  PubMed  Google Scholar 

  • Schuchman EH, Levran O, Pereira LV, Desnick RJ (1992) Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1). Genomics 12:197–205

    CAS  PubMed  Google Scholar 

  • Shacka JJ (2012) Mouse models of neuronal ceroid lipofuscinoses: useful pre-clinical tools to delineate disease pathophysiology and validate therapeutics. Brain Res Bull 88:43–57

    CAS  PubMed  Google Scholar 

  • Shapiro LJ, Aleck KA, Kaback MM et al (1979) Metachromatic leukodystrophy without arylsulfatase A deficiency. Pediatr Res 13:1179–1181

    CAS  PubMed  Google Scholar 

  • Siddiqi ZA, Sanders DB, Massey JM et al (2006) Peripheral neuropathy in Krabbe disease. Effect of hematopoietic stem cell transplantation. Neurology 67:268–272

    PubMed  Google Scholar 

  • Sima AAF, Robertson DM (1978) Involvement of peripheral nerve and muscle in Fabry’s disease. Arch Neurol 35:291–301

    CAS  PubMed  Google Scholar 

  • Singh I, Lazo O, Dhaunsi GS, Contreras M (1992) Transport of fatty acids into human and rat peroxisomes. Differential transport of palmitic and lignoceric acids and its implication to X-adrenoleukodystrophy. J Biol Chem 267:13306–13313

    CAS  PubMed  Google Scholar 

  • Smith B, Galbiati F, Castelvetri LC et al (2011) Peripheral neuropathy in the Twitcher mouse involves the activation of axonal caspase 3. ASN Neuro 3(4):art:e00066. doi:10.1042/AN20110019

  • Sourander P, Olsson Y (1968) Peripheral neuropathy in globoid cell leucodystrophy (Morbus Krabbe). Acta Neuropathol 11:69–81

    CAS  PubMed  Google Scholar 

  • Spence MW, Callahan JW (1989) Sphingomyelin-cholesterol lipidoses: the Niemann–Pick group of diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 1655–1676

    Google Scholar 

  • Steinman L, Tharp BR, Dorfman LJ et al (1980) Peripheral neuropathy in the cherry-red spot myoclonus syndrome (sialidosis type I). Ann Neurol 7:450–456

    CAS  PubMed  Google Scholar 

  • Stevens RL, Fluharty AH, Kihara H et al (1981) Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy. Am J Hum Genet 33:900–906

    CAS  PubMed Central  PubMed  Google Scholar 

  • Suzuki K (1998) Twenty five years of the ‘psychosine hypothesis’: a personal perspective of its history and present status. Neurochem Res 23:251–259

    CAS  PubMed  Google Scholar 

  • Suzuki K, Grover WD (1970) Krabbe’s leukodystrophy (globoid cell leukodystrophy). Arch Neurol 22:385–396

    Google Scholar 

  • Suzuki K, Suzuki Y (1989) Galactosylceramide lipidosis: globoid cell leukodystrophy (Krabbe disease). In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw Hill, New York, pp 1699–1720

    Google Scholar 

  • Suzuki K, Suzuki K, Chen GC (1967) Isolation and chemical characterization of metachromatic granules from a brain with metachromatic leukodystrophy. J Neuropathol Exp Neurol 26:537–550

    CAS  PubMed  Google Scholar 

  • Swift TR, McDonald TF (1976) Peripheral nerve involvement in Hunter Syndrome (Mucopolysaccharidosis II). Arch Neurol 33:845–846

    CAS  PubMed  Google Scholar 

  • Tabira T, Goto I, Kuroiwa Y (1974) Neuropathological and biochemical studies in Fabry’s disease. Acta Neuropathol 30:345–354

    CAS  PubMed  Google Scholar 

  • Takahashi K, Naito M (1985) Lipid storage disease: part II. Ultrastructural pathology of lipid storage cells in sphingolipidoses. Acta Pathol Jpn 35:385–408

    CAS  PubMed  Google Scholar 

  • Takahashi T, Desnick RJ, Takada G, Schuchman EH (1992) Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann–Pick Disease. Hum Mutat 1:70–71

    CAS  PubMed  Google Scholar 

  • Thomas PK (1993) Other inherited neuropathies. In: Dyck PJ, Thomas PK et al (eds) Peripheral neuropathy, 3rd edn. W.B. Saunders, Philadelphia, pp 1194–1218

    Google Scholar 

  • Thomas PK, King RHM, Kocen RS, Brett EM (1977) Comparative ultrastructural observations on peripheral nerve abnormalities in the late infantile, juvenile and late onset forms of metachromatic leukodystrophy. Acta Neuropathol 39:237–245

    CAS  PubMed  Google Scholar 

  • Thomas PK, Halpern JP, King RHM, Patrick D (1984) Galactosylceramide lipidosis: novel presentation as a slowly progressive spinocerebellar degeneration. Ann Neurol 16:618–620

    CAS  PubMed  Google Scholar 

  • Thomas PK, Young E, King RH (1989) Sandhoff disease mimicking adult-onset bulbospinal neuronopathy. J Neurol Neurosurg Psychiatry 52:1103–1106

    CAS  PubMed Central  PubMed  Google Scholar 

  • Tome FMS, Fardeau M (1976) Ultrastructural study of a muscle biopsy in a case of GM1 Gangliosidosis type I. Pathol Eur 11:15–25

    CAS  PubMed  Google Scholar 

  • Tome FMS, Fardeau M, Lenoir G (1977) Ultrastructure of muscle and sensory nerve in Fabry’s disease. Acta Neuropathol 38:187–194

    CAS  PubMed  Google Scholar 

  • Towfighi J, Baird HW, Gametti P, Gonatas NK (1973) The significance of cytoplasmic inclusions in late infantile and juvenile amaurotic idiocy. Acta Neuropathol 23:32–42

    CAS  PubMed  Google Scholar 

  • Toyooka K (2011) Fabry disease. Curr Opin Neurol 24:463–468

    PubMed  Google Scholar 

  • Toyooka K (2013) Chapter 37. Fabry disease. In: Said G, Krarup C (eds) Handbook of clinical neurology. Peripheral nerve disorders, vol 115 (3rd series). Elsevier BV, Amsterdam, pp 629–642

    Google Scholar 

  • Ugawa Y, Onoue K, Takemura T, Iwamasa T (1986) Accumulation of glycogen in sural nerve axons in adult-onset type III glycogenosis. Ann Neurol 19:294–297

    CAS  PubMed  Google Scholar 

  • Vallat JM, Bourre JM, Dumont O et al (1985) Case of dementia and myoclonia in an adult with anomalies in polyunsaturated fatty acids in leucocytes and peripheral nerve. Eur Neurol 24:208–216

    CAS  PubMed  Google Scholar 

  • van Hellenberg Hubar JL, Joosten EM, Wevers RA (1992) Cerebrotendinous xanthomatosis. Clin Neurol Neurosurg 94:S165–S167

    PubMed  Google Scholar 

  • Vissian L, Kermarec J, Manessero J et al (1970) Interet de la biopsie cutanee dans les sphingolipidoses et les mucopolysaccharidoses de l’enfant. A propos d’un case de maladie de Norman–Landing avec recherches enzymatique et ultra-structurales. Ann Dermat Syphil 97:21–38

    CAS  Google Scholar 

  • Vital C, Vallat JM (1987) Ultrastructural study of the human diseased peripheral nerve, 2nd edn. Elsevier, New York, pp 219–243

    Google Scholar 

  • Vital C, Battin J, Rivel J, Hehunstre JP (1976) Aspects ultrastructuraux des lesions du nerf peripherique dans un cas de maladie de Farber. Rev Neurol 132:419–423

    CAS  PubMed  Google Scholar 

  • Vital A, Vital C, Maleville J (1984) Fabry’s disease: an ultrastructural study of muscle and peripheral nerve. Clin Neuropathol 3:168–172

    CAS  PubMed  Google Scholar 

  • Vos AJM, Joosten EMG, Fabreels-Festen AAWM et al (1982) The diagnostic value of sural nerve biopsy in metachromatic leukodystrophy and other conditions with low leucocyte arylsulphatase A activities. Neuropediatrics 13:42–47

    CAS  PubMed  Google Scholar 

  • Vos AJM, Joosten EMG, Gabreels-Festen AAWM, Fabreels FJM (1983) An atypical case of infantile globoid cell leukodystrophy. Neuropediatrics 14:110–112

    CAS  PubMed  Google Scholar 

  • Wang Z, Yuan Y, Zhang W et al (2007) Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathy. Neuropathology 27:62–66

    PubMed  Google Scholar 

  • Webster HF (1962) Schwann cell alteration in metachromatic leukodystrophy: preliminary phase and electron microscopic observations. J Neuropathol Exp Neurol 21:534–541

    CAS  PubMed  Google Scholar 

  • White AB, Givogri MI, Lopez-Rosas A et al (2009) Psychosine accumulates in membrane microdomains in the brain of Krabbe patients, disrupting the raft architecture. J Neurosci 29:6068–6077

    CAS  PubMed  Google Scholar 

  • Wisniewski KE, Kida E, Patxot OF, Connell F (1992) Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinoses: review of data and observations. Am J Med Genet 42:525–532

    Google Scholar 

  • Yan W, Boustany RM, Konradi C et al (1992) Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16. Am J Hum Genet 52:89–95

    Google Scholar 

  • Yudell A, Gomez MR, Lambert EH, Dockerty MB (1967) The neuropathy of sulfatide lipidosis (metachromatic leukodystrophy). Neurology 17:103–111

    CAS  PubMed  Google Scholar 

  • Yunis EJ, Lee RE (1972) Further observations on the fine structure of globoid leukodystrophy. Hum Pathol 3:371–388

    CAS  PubMed  Google Scholar 

  • Zappatini-Tommasi L, Dumontel C, Guibaud P, Girod C (1992) Farber disease: an ultrastructural study. Report of a case and review of the literature. Virchows Arch A Pathol Anat Histopathol 420:281–290

    CAS  PubMed  Google Scholar 

  • Zyss J, Behin A, Couvert P et al (2012) Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease. J Neurol 259:1222–1226

    CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Sunnybrook and St Michael’s Hospitals, University of Toronto, Toronto, ON, Canada

    Juan M. Bilbao MD, FRCP (C) (Professor Emeritus of Neuropathology)

  2. Division of Neuropathology Department of Pathology, Washington University School of Medicine, St. Louis, MO, USA

    Robert E. Schmidt MD, PhD (Professor of Pathology and Immunology Director)

Authors
  1. Juan M. Bilbao MD, FRCP (C)
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Robert E. Schmidt MD, PhD
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

Copyright information

© 2015 Springer International Publishing Switzerland

About this chapter

Cite this chapter

Bilbao, J.M., Schmidt, R.E. (2015). Storage Diseases. In: Biopsy Diagnosis of Peripheral Neuropathy. Springer, Cham. https://doi.org/10.1007/978-3-319-07311-8_20

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-07311-8_20

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-07310-1

  • Online ISBN: 978-3-319-07311-8

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation