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Genetic Basis of Neurologic and Neuromuscular Diseases

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Book cover Molecular Diagnostics

Part of the book series: Pathology and Laboratory Medicine ((PLM))

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Abstract

Traditionally, the diagnosis of neurological and neuromuscular disorders was based on patient history, clinical findings, and pedigree analysis. As the result of the Human Genome Project and advances in the fields of cytogenetics and molecular genetics, genes involved in both normal and pathologic processes have been mapped, cloned, and characterized. The types of DNA mutations that have been implicated in neurological diseases include trinucleotide repeat expansions, point mutations, insertions, deletions, and duplications. This chapter describes selected disorders that exemplify the types of mutations and molecular mechanisms involved in neurological and neuro-muscular disorders that have been identified to date.

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References

  1. Fu, Y. H., Kuhl, D. P. A., Pizzuti, A., Pieretti, M., Sutcliffe, J. S., Richards, S., Verkerk, A. H. M. H., Holden, J. J. A., Fenwick, R. G., Jr., Warren, S. T., Oostra, B. A., Nelson, D. L., and Caskey, C. T. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67:1047–1058, 1991.

    Article  PubMed  CAS  Google Scholar 

  2. La Spada, A. R., Wilson, E. M., Lubahn, D. B., Harding, A. E., and Fischbeck, K. H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352:77–79, 1991.

    Article  PubMed  Google Scholar 

  3. La Spada, A. R., Paulson, H. L., and Fischbeck, K. H. Trinucleotide repeat expansion in neurological disease. Ann. Neurol. 36:814–822, 1994.

    Article  PubMed  Google Scholar 

  4. Bates, G. and Lehrach, H. Trinucleotide repeat expansions and human genetic disease. BioEssays 16:277–284, 1994.

    Article  PubMed  CAS  Google Scholar 

  5. Plassart, E. and Fontaine, B. Genes with triplet repeats: a new class of mutations causing neurological diseases. Biomed. Pharmacother. 48:191–197, 1994.

    Article  PubMed  CAS  Google Scholar 

  6. Caskey, C. T., Pizzuti, A., Fu, Y. H., Fenwick, R. J., Jr., and Nelson, D. L. Triplet repeat mutations in human disease. Science 256:784–789, 1992.

    Article  PubMed  CAS  Google Scholar 

  7. Zuhlke, C., Riess, O., Bockel, B., Lange, H., and Thies, U. Mitotic stability and meiotic variability of the (CAG)„ repeat in the Huntington disease gene. Hum. Mol. Genet. 2:2063–2067, 1993.

    Article  PubMed  CAS  Google Scholar 

  8. Snow, K., Tester, D. J., Kruckeberg, K. E., Schaid, D. J., and Thibodeau, S. N. Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation. Hum. Mol. Genet. 9:1543–1551, 1994.

    Article  Google Scholar 

  9. Zoghbi, H. Y. and Orr, H. T. Spinocerebellar ataxia type 1. Semin. Cell Biol. 6:29–35, 1995.

    Article  PubMed  CAS  Google Scholar 

  10. Snow, K., Doud, L. K., Hagerman, R., Pergolizz, R. G., Erster, S. H., and Thibodeau, S. N. Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the gen-eral population. Am. J. Hum. Genet. 53:1217–1228, 1993.

    PubMed  CAS  Google Scholar 

  11. La Spada, A. R., Roling, D. B., Harding, A. E., Warner, C. L., Spiegel, R., Hausmanowa-Petrusewicz, I., Yee, W.-C., and Fischbeck, K. H. Meiotic stability and genotype-pheno-type correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nature Genet. 2:301–304, 1992.

    Article  PubMed  Google Scholar 

  12. Maciel, P., Gaspar, C., DeStefano, A. L., Silveira, I., Coutinho, P., Radvany, J., Dawson, D. M., Sudarsky, L., Guimaraes, J., Loureiro, J. E. L., Nezarati, M. M., Corwin, L. I., Lopes-Cendes, I., Rooke, K., Rosenberg, R., MacLeod, P., Farrer, L. A., Sequeiros, J., and Rouleau, G. A. Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am. J. Hum. Genet. 57:54–61, 1995.

    PubMed  CAS  Google Scholar 

  13. Nagafuchi, S., Yanagisawa, H., Sato, K., Shirayama, T., Ohsaki, E., Bundo, M., Takeda, T., Tadokoro, K., Kondo, I., Murayama, N., Tanaka, Y., Kikushima, H., Umino, K., Kurosawa, H., Furukawa, T., Nihei, K., Inoue, T., Sano, A., Komure, O., Takahashi, M., Yoshizawa, T., Kanazawa, I., and Yamada, M. Dentatorubral and pallidoluysian atro-phy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet. 6:14–18, 1994.

    Article  PubMed  CAS  Google Scholar 

  14. Tsilfidis, C., MaKenzie, A. E., Mettler, G., Barcelo, J., and Korneluk, R. G. Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nature Genet. 1:192–195, 1992.

    Google Scholar 

  15. Orr, H. T., Chung, M., Banfi, S., Kwiatkowski, T. J., Jr., Servadio, A., Beaudet, A. L., McCall, A. E., Duvick, L. A., Ranum, L. P. W., and Zoghbi, H. Y. Expansion of an unstable trinucteotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet. 4:221–226, 1993.

    Article  PubMed  CAS  Google Scholar 

  16. Andrew, S. E., Goldberg, Y. P., Kremer, B., Telenius, H., Theilmann, J., Adam, S., Starr, E., Squitieri, F., Lin, B., Kalchman, M. A., Graham, R. K., and Hayden, M. R. The rela-tionship between trinucleotide (CAG) repeat length and clinical features of Huntington’s disease. Nature Genet. 4:398–403, 1993.

    Article  PubMed  CAS  Google Scholar 

  17. Chung, M., Ranum, L. P. W., Duvick, L. A., Servadio, A., Zoghbi, H. Y., and Orr, H. T. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1. Nature Genet. 5:254–258, 1993.

    Article  PubMed  CAS  Google Scholar 

  18. Duyao, M., Ambrose, C., Myers, R., Novelletto, A., Persichetti, F., Frontali, M., Folstein, S., Ross, C., Franz, M., Abbott, M., Gray, J., Conneally, P., Young, A., Penney, J., Hollingsworth, Z., Shoulson, I., Lazzarini, A., Falek, A., Koroshetz, W., Sax, D., Bird, E., Vonsattel, J., Bonilla, E., Alvir, J., Bickham Conde, J., Cha, J.-H., Dure, L., Gomez, F., Ramos, M., Sanchez-Ramos, J., Snodgrass, S., de Young, M., Wexler, N., Moscowitz, C., Penchaszadeh, G., MacFarlane, H., Anderson, M., Jenkins, B., Srinidhi, J., Barnes, G., and MacDonald, M. Trinucleotide repeat length instability and age of onset in Huntington’s disease. Nature Genet. 4:387–392, 1993.

    Article  PubMed  CAS  Google Scholar 

  19. Reyniers, E., Vits, L., de Boulle, K., Van Roy, B., Van Velzen, D., de Graaf, E., Verkerk, A. J. M. H., Jorens, H. Z. J., Darby, J. K., Oostra, B., and Willems, P. J. The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm. Nature Genet. 4:143–146, 1993.

    Article  PubMed  CAS  Google Scholar 

  20. Fu, Y.-H., Pizzuti, A., Fenwick, R. G., Jr., King, J., Rajnarayan, S., Dunne, P. W., Dubel, J., Nasser, G. A., Ashizawa, T., de Jong, P., Wieringa, B., Korneluk, R., Perryman, M. B., Epstein, H. F., and Caskey, C. T. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255:1256–1258, 1992.

    Article  PubMed  CAS  Google Scholar 

  21. Hoogeveen, A., Willemsen, R., Meyer, N., Rooij, K. E., Roos, R. A. C., Ommen, Get-Jan, B. V., and Galjaard, H. Characterization and localization of the Huntington disease gene product. Hum. Mol. Genet. 2:2069–2073, 1993.

    Article  PubMed  CAS  Google Scholar 

  22. Li, X. J., Li, S. H., Sharp, A. H., Nucifora, F. C., Jr., Schilling, G., Lanahan, A., Worley, P., Snyder, S. H., and Ross, C. A. A huntington-associated protein enriched in brain with implication for pathology. Nature 378:398–402, 1995.

    Article  PubMed  CAS  Google Scholar 

  23. La Spada, A. R., Paulson, H. L., and Fischbeck, K. H. Trinucleotide repeat expansion in neurological disease. Ann. Neurol. 6:814–822, 1994.

    Article  Google Scholar 

  24. Mhatre, A. N., Trifiro, M. A., Kaufman, M., Kazemi-Esfarjani, P., Figlewicz, D., Rouleau, G., and Pinsky, L. Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy. Nature Genet. 5:184–188, 1993.

    Article  PubMed  CAS  Google Scholar 

  25. Pieretti, M., Zhang, F., Fu, Y.-H., Warren, S. T., Oostra, B. A., Caskey, C. T., and Nelson, D. L. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66:817–822, 1991.

    Article  PubMed  CAS  Google Scholar 

  26. Fu, Y. H., Friedman, D. L., Richards, S., Pearlman, J. A., Gibbs, R. A., Pizzuti, A., Ashizawa, T., Perryman, B., Scarlato, G., Fenwick, R. G., Jr., and Caskey, C. T. Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science 260:235–238, 1993.

    Article  PubMed  CAS  Google Scholar 

  27. Sabouri, L. A., Mahadevan, M. S., Narang, M., Lee, D. S. C., Surh, L. C., and Korneluk, R. G. Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene. Nature Genet. 4:233–238, 1993.

    Article  PubMed  CAS  Google Scholar 

  28. Timchenko, L., Monckton, D. G., and Caskey, C. T. Myotonic dystrophy: an unstable CTG repeat in a protein kinase gene. Semin. Cell Biol. 6:13–19, 1995.

    Article  PubMed  CAS  Google Scholar 

  29. Waren, S. T. and Nelson, D. L. Advances in molecular analysis of fragile X syndrome. JAMA 7:536–542, 1994.

    Google Scholar 

  30. Taylor, A. K., Safanda, J. F., Fall, M. Z., Quince, C., Lang, K. A., Hull, C. E., Carpenter, I., Staley, L. W., and Hagerman, R. J. Molecular predictors of cognitive involvement in female carriers of fragile X syndrome. JAMA 271:507–514, 1994.

    Article  PubMed  CAS  Google Scholar 

  31. Pearn, J. Spinal muscular atrophies, in Principles and Practice ofMedical Genetics, 2nd ed., vol. 1, Emery, A. and Rimoin, A., eds., Churchill Livingston, New York, pp. 565– 578, 1990.

    Google Scholar 

  32. Baraitson, M. The Genetics of Neurologic Disorders, 2nd ed., Oxford University Press, pp. 248–257, 1990.

    Google Scholar 

  33. Davies, K. E., Thomas, N. H., Daniels, R. J., and Dubowitz, V. Molecular studies of spi-nal muscular atrophy. Neuromuscular Disord. 1:83–85, 1991.

    Google Scholar 

  34. Melki, J., Lefebvre, S., Burglen, L., Burlet, P., Clermont, O., Millasseau, P., Reboullet, S., Benichou, B., Zeviani, M., Le Paslier, D., Cohen, D., Weissenbach, J., and Munnich, A. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 264:1474–1477, 1994.

    Article  PubMed  CAS  Google Scholar 

  35. Lefebvre, S., Burglen„ Reboullet, S., Clermont, O., Burlet, P., Viollet, L., Benichou, B., Cruaud, C., Millasseau, P., Zeviani, M., Le Paslier, D., Frezal, J., Cohen, D., Weissenbach, J., Munnich, A., and Melki, J. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80:155–165, 1995.

    CAS  Google Scholar 

  36. Roy, N., Mahadevan, M. S., McLean, M., Shutler, G., Yaraghi, Z., Farahani, R., Baird, S., Besner-Johnston, A., Lefebvre, C., Kang, X., Salih, M., Aubry, H., Tamai, K., Guan, X., Ioannou, P., Crawford, T. O., de Jong, P. J., Surh, L., Ikeda, J.-E., Komeluk, R. G., and MacKenzie, A. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 80:167–178, 1995.

    Article  PubMed  CAS  Google Scholar 

  37. Hahnen, E., Forkert, R., Marke, C., Rudnikschoneborn, S., Shonling, J., Zerres, K., and Wirth, B. Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy. Evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum. Mol. Genet. 4:1927–1933, 1995.

    Article  PubMed  CAS  Google Scholar 

  38. Rudnik-Schoneborn, S., Rohrig, D., Morgan, G., Wirth, B., and Zerres, K. Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: Clinical picture, influence of gender, and genetic implications. Am. J. Med. Genet. 51:70–76, 1994.

    Article  PubMed  CAS  Google Scholar 

  39. Cobben, J. M., van der Steege, G., Grootscholten, P., de Visser, M., Scheffer, H., and Buys, C. H. C. M. Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am. J. Hum. Genet. 57:805–808, 1995.

    PubMed  CAS  Google Scholar 

  40. Wirth, B., Rudnik-Schoneborn, S., Hahnen, E., Rohrig, D., and Zerres, K. Prenatal predic-tion in families with autosomal recessive proximal spinal muscular atrophy (5q11.2-q13.3): molecular menetics and clinical experience in 109 cases. Prenat. Diagn. 15:407–417, 1995.

    Article  PubMed  CAS  Google Scholar 

  41. Wang, C. H., Xu, J., Carter, T. A., Ross, B. M., Sugarman, E. A., Allitto, B. A., Penchaszadeh, G. K., Munsat, T. L., and Gilliam, T. C. Analysis of the survival motor neuron (SMN) gene in spinal muscular atrophy families. Am. Soc. Hum. Genet. 57:A253, 1995.

    Google Scholar 

  42. Gutman, D. H. and Collins, F. von Recklinghausen Neurofibromatosis, in The Metabolic and Molecular Bases of Inherited Disease, 7th ed., Scriver C., ed., McGraw-Hill, New York, pp. 677–692, 1995.

    Google Scholar 

  43. Barker, D., Wright, E., Nguyen, K., Cannon, L., Fain, P., Goldgar, D., Bishop, D. T., Carey, J., Baty, B., Kivlin, J., Willard, H., Wayne, J. S., Greig, G., Leinwand, L., Nakamura, Y., O’Connell, P., Leppert, M., Lalouel, J.-M., White, R., and Skolnick, M. Gene for von Recklinghausen neurofibromatosis is in the perimcentromeric region of chro-mosome 17. Science 236:1100–1102, 1987.

    Article  PubMed  CAS  Google Scholar 

  44. Viskochil, D., White, R., and Cawthon, R. The neurofibromatosis type 1 gene. Ann. Rev. Neurosci. 16:183–205, 1993.

    Article  PubMed  CAS  Google Scholar 

  45. Upadhyaya, M., Shaw, D. J., and Harper, P. S. Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene. Hum. Mutat. 4:83– 101, 1994.

    Google Scholar 

  46. Johnson, M. R., DeClue, J. E., Felzmann, S., Vass, W. C., Xu, G., White, R., and Lowy, D. R. Neurofibromin can inhibit ras-dependent growth by a mechanism independent of its GTPase-accelerating function. Mol. Cell. Biol. 14:641–645, 1994.

    PubMed  CAS  Google Scholar 

  47. McCormick, F. Ras signaling and NFl. Curr. Opinion Gene. Devel. 5:51–55, 1995.

    Article  CAS  Google Scholar 

  48. Ishioka, C., Ballester, R., Engelstein, M., Vidal, M., Kassel, J., The, I., Bernards, A., Gusella, J. F., and Friend, S. H. A functional assay for heterozygous mutations in GTPase activation protein related domain of the neurofibromin type 1 gene. Oncogene 10:841–847, 1995.

    PubMed  CAS  Google Scholar 

  49. Heim, R. A., Kam-Morgan, L. M. W., Binnie, C. G., Corna, D. D., Cayouette, M. C., Farber, R. A., Aylsworth, A. S., Silverman, L. M., and Luce, M. C. Neurofibromatosis 1 (NF 1) truncating mutations are dispersed throughout the NF 1 gene (abstract). Am. J. Hum. Gen. 57(Suppl.):A214, 1995.

    Google Scholar 

  50. Boder, E. Ataxia-telangiectasia: an overview. Kroc Foundation Series 19:1–63, 1985.

    PubMed  CAS  Google Scholar 

  51. Blaese, R. M. Genetic immunodeficiency syndromes with defects in both T- and B-lym-phocyte function, in The Metabolic and Molecular Bases of Inherited Disease, 7th ed., Scriver, C., ed., McGraw-Hill, New York, pp. 3901,3902, 1995.

    Google Scholar 

  52. Waldmann, T. A., Strober, W., and Blaese, R. M. Immunodeficiency disease and malig-nancy. Ann. Intern. Med. 77:605,1972.

    Google Scholar 

  53. Spector, B. D., Perry, G. S., and Kersey, J. H. Genetically determined immunodeficiency disease and malignancy: report from the immunodeficiency-cancer registry. Clin. Immunol. Immunopathol. 11:12, 1978.

    Article  PubMed  CAS  Google Scholar 

  54. Gatti, R. A. Ataxia-telangiectasia. Dermatol. Clin. 13:1–6, 1995.

    Article  PubMed  CAS  Google Scholar 

  55. West, C. M., Elyan, S. A., Berry, P., Cowan, R., and Scott, D. A comparison of the radi-osensitivity of lymphocytes from normal donors, cancer patients, individuals with ataxia-telangiectasia, and ataxia-telangiectasia heterozygotes. J. Radiat. Biol. 68:197–203, 1995.

    Article  CAS  Google Scholar 

  56. Swift, M., Morrell, D., Massey, R. B., and Chase, C. L. Incidence of cancer in 161 fami-lies affected by ataxia-telangiectasia. New Engl. J. Med. 325:1831–1836, 1991.

    Article  PubMed  CAS  Google Scholar 

  57. Easton, D. F. Cancer risks in ataxia-telangiectasia heterozygotes. J. Radiat. Biol. 66(Suppl. 6):S177–182, 1994.

    Article  Google Scholar 

  58. Kojis, T. L., Schneck, R. R., Gatti, R. A., and Sparkes, R. S. Tissue specificity of chromo-somal rearrangements in ataxia-telangiectasia. Hum. Genet. 83:347–52, 1989.

    Article  PubMed  CAS  Google Scholar 

  59. Kaufman, W. K. Cell cycle checkpoints and DNA repair preserve the stability of the human genome. Cancer Metastasis Rev. 14:31–41, 1995.

    Article  Google Scholar 

  60. Jaspers, N. G., Gatti, R. A., Baan, C., Linssen, P. C., and Bootsma, D. Genetic comple-mentation analysis of ataxia-telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients. Cytogenet. Cell Genet. 49:259–263, 1988.

    Article  PubMed  CAS  Google Scholar 

  61. Gatti, R. A., Berkel, I., Boder, E., Braedt, G., Charmley, P., Concannon, P., Ersoy, F., Foround, T., Jaspers, N. G. J., Lange, K., Lathrop, G. M., Leppert, M., Nakamura, Y., O’Connell, P., Paterson, M., Salser, W., Sanal, O., Silver, J., Sparkes, R. S., Susi, E., Weeks, D. E., Wei, S., White, R., and Yoder, F. Localization of an ataxia-telangiectasia gene to chromosome 11q22–23. Nature 336:577–580, 1988.

    Article  PubMed  CAS  Google Scholar 

  62. Savitsky, K., Bar-Shira, A., Gilad, S., Rotman, G., Ziv, Y., Vanagaite, L., Tagle, D. A., Smith, S., Uziel, T., Sfez, S., Ashkenazi, M., Pecker, I., Frydman, M., Harnik, R., Patanjali, S. R., Simons, A., Clines, G. A., Sartiel, A., Gatti, R. A., Chessa, L., Sanal, O., Lavin, M. F., Jaspers, N. G. J., Malcolm, A., Raylor, R., Arlett, C. F., Miki, T., Weissman, S. M., Lovett, M., Collins, F. S., and Shiloh, Y. A single ataxia telangiectasia gene with a prod-uct similar to PI-3 Kinase. Science 268:1749–1753, 1995.

    Article  PubMed  CAS  Google Scholar 

  63. Charcot, J. M., Marie, P. Sur une forme particuliere d’atrophie musculaire progressive solvent familiale debutante par les pieds et les jambes et atteigrante plus tard les mains. Rev. Med. 6:97, 1886.

    Google Scholar 

  64. Tooth, H. H. The Peroneal Type ofProgressive Muscular Atrophy. H. K. Lewis, London, 1886.

    Google Scholar 

  65. Wise, C. A., Garcia, C. A., Davis, S. N., Zhang, H., Pentao, L., Patel, P. I., and Lupski, J. R. Molecular analysis of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication. Am. J. Hum. Genet. 53:853, 1993.

    PubMed  CAS  Google Scholar 

  66. Chance, P. F., Abbas, N., Lensch, M. W., Pentao, L., Roa, B. B., Patel, P. L., and Lupski, J. R. Two autosomal dominant neuropathies results from reciprocal DNA duplication/ deletion of a region on chromosome 17. Hum. Mol. Genet. 3:223–228, 1994.

    Article  PubMed  CAS  Google Scholar 

  67. Lupski, J. R., Montes de Oca-Luna, R., Slaugenhaupt, S., Pentao, L., Guzzetta, V., Trask, B. J., Saucedo-Cardenas, O., Barker, D. F., Killan, J. M., Garcia, C. A., Chakravarti, A., and Patel, P. I. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66:219, 1991.

    CAS  Google Scholar 

  68. Matsunami, N., Smith, B., Ballard, L., Lensch, M. W., Robertson, M., Albertsen, H., Hanemann, C. O., Muller, H. W., Bird, T. D., White, R., and Chance, P. F. Peripheral myelin protein-22 gene maps in the duplication of chromosome 17p 11.2 associated with Charcot-Marie-Tooth 1A. Nature Genet. 1:176, 1992.

    Article  PubMed  CAS  Google Scholar 

  69. Nicholson, G. A., Valentijn, L. J., Cherryson, A. K., Kennerson, M. L., Bragg, T. L., DeKroon, R. M., Ross, D. A., Pollard, J. D., Mcleod, J. G., Bolhius, P. A., and Baas, F. A frame shift mutation in the PMP22 gene in hereditary peripheral neuropathy with liability to pressure palsies. Nature Genet. 6:263–266, 1994.

    Article  PubMed  CAS  Google Scholar 

  70. Wright, E. C., Goldgar, D. E., Fain, P. R., Barker, D. F., and Skolnick, M. H. A genetic map of human chromosome 17p. Genomics 7:103–109, 1990.

    Article  PubMed  CAS  Google Scholar 

  71. Ballabio, A. and Zoghbi, H. Y. Charcot-Marie-Tooth Disease and hereditary neuropathy with liability to pressure palsies, in The Metabolic and Molecular Basis of Inherited Disease, 7th ed., McGraw-Hill, New York, pp. 4569–4573, 1995.

    Google Scholar 

  72. Chance, P. F., Alderson, M. K., Leppig, K. A., Lensch, M. W., Matsunami, N., Smith, B., Swanson, P. D., Odelberg, S. J., Disteche, C. M., and Bird, T. D. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72:143, 1993.

    Article  PubMed  CAS  Google Scholar 

  73. Windebank, A. J., Schenone, A., and Dewald, G.W. Hereditary neuropathy with liability to pressure palsies and inherited brachial plexus neuropathy-two genetically distinct dis-orders. Mayo Clin. Proc. 70:743–746, 1995.

    Article  PubMed  CAS  Google Scholar 

  74. Roa, B. B., Garcia, C. A., Suter, U., Kulpa, D. A., Wise, C. A., Mueller, J., Welcher, A. A., Snipes, G. J., Shooter, E. M., Patel, P. I., and Lupski, J. R. Charcot-Marie-Tooth dis-ease type lA association with a spontaneous point mutation in the PMP22 gene. New Engl. J. Med. 329:96, 1993.

    Article  PubMed  CAS  Google Scholar 

  75. Emery, A. E. H. Clinical features, in Duchenne Muscular Dystrophy, 2nd ed., Motulsky, A. G., Harper, P. S., Bobrow, M., and Scriver, C., eds. Oxford University Press, New York, pp. 26–41, 1993.

    Google Scholar 

  76. Koenig, M., Beggs, A. H., Moyer, M., Scherpf, S., Heindrich, K., Bettecken, T., Meng, G., Muller, C. R., Lindlof, M., and Kaariainen, H. The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am. J. Hum. Genet. 45:498, 1989.

    PubMed  CAS  Google Scholar 

  77. Monaco, A. P. and Kunkel, L. M. Cloning of the Duchenne/Becker muscular dystrophy locus. Adv. Hum. Genet. 17:61, 1988.

    PubMed  CAS  Google Scholar 

  78. Ervasti, J. M. and Campbell, K. P. Membrane organization of the dystrophin-glyco-membrane complex. Cell 66:1121, 1991.

    Article  PubMed  CAS  Google Scholar 

  79. Gorecki, D. C., Monaco, A. P., Derry, J. M. J., Walker, A. P., Barnard, E. A., and Barnard, P. J. Expression of four alternative transcripts in brain regions regulated by different promotors. Hum. Mol. Genet. 1:505, 1992.

    Article  PubMed  CAS  Google Scholar 

  80. Koenig, M., Hoffman, E. P., Bertelson, C. J., Monaco, A. P., Feener, C., and Kunkel, L. M. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and prelimi-nary genomic organization of the DMD gene in normal and affected individuals. Cell 50:509, 1987.

    Article  PubMed  CAS  Google Scholar 

  81. Coffey, A. J., Roberts, R. G., Green, E. D., Cole, C. G., Butler, R., Anand, R., Giannelli, F., and Bentley, D. R. Construction of a 2.6-Mb contig in yeast artificial chromosomes spanning the human dystrophin gene using an STS-based approach. Genomics 12:474, 1992.

    Article  PubMed  CAS  Google Scholar 

  82. Worton, R. G. and Brooke, M. H. The X-linked muscular dystrophies, in The Metabolic and Molecular Basis ofInherited Disease, 7th ed., McGraw-Hill, New York, pp. 4195– 4226, 1995.

    Google Scholar 

  83. Roberts, R. G., Coffey, A. J., Bobrow, M., Bentley, D. R. Exon structure of the human dystrophin gene. Genomics 16:536, 1993.

    Article  PubMed  CAS  Google Scholar 

  84. Chamberlain, J. S., Gibbs, R. A., Ranier, J. E., Nguyen, P. N., and Caskey, C. T. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res. 16:11141, 1988.

    Google Scholar 

  85. Beggs, A. H., Koenig, M., Boyce, F. M., and Kunkel, L. M. Detection of 98% of DMD/ BMD gene deletions by polymerase chain reaction. Hum. Genet. 86:45, 1990.

    Article  PubMed  CAS  Google Scholar 

  86. Clements, P. R., Fenwick, R. G., Chamberlain, J. S., Gibbs, R. A., de Andrade, M., Chakroborty, R., and Caskey, C. T. Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am. J. Hum. Genet. 49:951–960, 1991.

    Google Scholar 

  87. Beggs, A. H. and Kunkel, L. M. Improved diagnosis of Duchenne/Becker Muscular Dys-trophy. J. Clin. Invest. 85:613–619, 1990.

    Article  PubMed  CAS  Google Scholar 

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Authors
  1. Myra J. Wick
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  2. Pamela A. Crifasi
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  3. Zhenyuan Wang
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  4. Stephen N. Thibodeau
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Editor information

Editors and Affiliations

  1. Department of Pathology and Laboratory Medicine, University of North Carolina School of Medicine, Chapel Hill, NC, USA

    William B. Coleman

  2. Department of Pathology and Laboratory Medicine, Hartford Hospital, Hartford, CT, USA

    Gregory J. Tsongalis

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© 1997 Springer Science+Business Media New York

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Wick, M.J., Crifasi, P.A., Wang, Z., Thibodeau, S.N. (1997). Genetic Basis of Neurologic and Neuromuscular Diseases. In: Coleman, W.B., Tsongalis, G.J. (eds) Molecular Diagnostics. Pathology and Laboratory Medicine. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-4757-2588-9_11

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  • DOI: https://doi.org/10.1007/978-1-4757-2588-9_11

  • Publisher Name: Humana Press, Totowa, NJ

  • Print ISBN: 978-1-4757-2590-2

  • Online ISBN: 978-1-4757-2588-9

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