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Inherited Diseases of the Spinal Cord

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Spinal Cord Disease

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Abstract

Inherited diseases that affect just the spinal cord are few in number, but of great importance medically and socially. The following section will deal with the clinical and pathological features of these conditions and consider what is known about the genetics, an extremely exciting area where there have been major developments in the last few years. Details of other conditions in which spinal cord involvement is a key feature will also be included, but it is not the intention to embark on a detailed review of all the diseases that may involve the spinal cord. The reader is referred to more specialized texts.

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References

  • Baraitser M (1989) The genetics of the spinal muscular atrophies. Progr Clin Biol Res 306:75–84

    CAS  Google Scholar 

  • Bassen FA, Kornzweig AL (1950) Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood 5:381–387

    PubMed  CAS  Google Scholar 

  • Ben Hamida M, Hentati F, Ben Hamida C (1990) Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Brain 113:347–363

    Article  PubMed  Google Scholar 

  • Ben Hamida C, Doerflinger N, Belal S et al. (1993a) Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. Nat Genet 5:195–200

    Google Scholar 

  • Ben Hamida M, Belal S, Sirugo G et al. (1993b) Friedreich’s ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families. Neurology 43:2179–2183

    CAS  Google Scholar 

  • Boustany RM, Fleischnick E, Alper CA et al. (1987) The autosomal dominant form of “pure” familial spastic paraplegia: clinical findings and linkage analysis of a large pedigree. Neurology 37:910–915

    PubMed  CAS  Google Scholar 

  • Brown CJ, Goss SJ, Lubahn DB et al. (1989) Androgen receptor locus on the human X chromosome: regional localization to Xqll-12 and description of a DNA polymorphism. Am J Hum Genet 44:264–269

    PubMed  CAS  Google Scholar 

  • Brown RHJ (1995) Amyotrophic lateral sclerosis: recent insights from genetics and transgenic mice. Cell 80:687–692

    Article  PubMed  CAS  Google Scholar 

  • Bruyn RPM (1991) Differential diagnostic work-up of spastic paratetraplegia. In: PJ V, Bruyn GW Klawans HL (eds) Handbook of clinical neurology, vol 15 Elsevier Science Publishers, Amsterdam, pp 425–445

    Google Scholar 

  • Bruyn RPM (1992) The neuropathology of hereditary spastic paraparesis. Clin Neurol Neurosurg 94:S16–S18

    Article  PubMed  Google Scholar 

  • Bruyn RPM, van Dijk JG, Scheltens P, Boezeman EH, Ongerboer de Visser BW (1994) Clinically silent dysfunction of dorsal columns and dorsal spinocerebellar tracts in hereditary spastic paraparesis. J Neurol Sei 125:206–211

    Article  CAS  Google Scholar 

  • Brzustowicz LM, Lehner T, Castilla LH et al. (1990) Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5ql 1.2–13.3. Nature 344:540–541

    Article  PubMed  CAS  Google Scholar 

  • Budka H, Sluga E, Heiss WD (1976) Spastic paraplegia associated with Addison’s disease: adult variant ofadreno-leukodystrophy. J Neurol 213:237–250

    Article  PubMed  CAS  Google Scholar 

  • Bundey S (1985) Genetics and neurology. Churchill Livingstone, Edinburgh, London, Melbourne, New York

    Google Scholar 

  • Burck U, Goebel HH, Kuhlendahl HD, Meier C, Goebel KM (1981) Neuromyopathy and vitamin Edeficiency in man. Neuropediatrics 12:267–278

    Article  PubMed  CAS  Google Scholar 

  • Chamberlain S, Shaw J, Rowland A et al. (1988) Mapping of mutation causing Friedreich’s ataxia tohuman chromosome 9. Nature 334:248–250

    Article  PubMed  CAS  Google Scholar 

  • Cote F, Collard JF, Julien JP (1993) Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: a mouse model of amyotrophic lateral sclerosis. Cell 73:35–46

    Article  PubMed  CAS  Google Scholar 

  • Durr A, Brice A, Serdaru M et al. (1994) The phenotype of “pure” autosomal dominant spastic paraplegia. Neurology 44:1274

    PubMed  CAS  Google Scholar 

  • Figlewicz DA, Krizus A, Martinoli MG et al. (1994) Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. Hum Mol Genet 3:1757–1761

    CAS  Google Scholar 

  • Fink JK, Sharp GB, Lange BM et al. (1995a) Autosomal dominant, familial spastic paraplegia, type I: clinical and genetic analysis of a large North American family. Neurology 45:325–331

    PubMed  CAS  Google Scholar 

  • Fink JK, Wu CT, Jones SM et al. (1995b) Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q. Am J Hum Genet 56:188–192

    PubMed  CAS  Google Scholar 

  • Fournier B, Smeitink JAM, Dorland L, Berger R, Saudebray JM, Poll-The BT (1994) Peroxisomal disorders: a review. J Inherit Metab Dis 17:470–486

    Article  PubMed  CAS  Google Scholar 

  • Geoffroy G, Barbeau A, Breton A et al. (1976) Clinical description and roentgenologic evaluation ofpatients with Friedreich’s ataxia. Can J Neurol Sei 3:279–286

    CAS  Google Scholar 

  • Gilliam TC, Brzustowicz LM, Castilla LH et al. (1990) Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature 345:823–825

    Article  PubMed  CAS  Google Scholar 

  • Gispert S, Santos N, Damen R et al. (1995) Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity. Am J Hum Genet 56:183–187

    PubMed  CAS  Google Scholar 

  • Harding AE (1981) Friedreich’s ataxia: a clinical and genetic study of 90 families with an analysis of early diagnositc criteria and intrafamilial clustering of clinical features. Brain 104:589–620

    Article  PubMed  CAS  Google Scholar 

  • Harding AE (1984) The hereditary ataxias and related disorders. Churchill Livingstone, Edinburgh, London.

    Google Scholar 

  • Harding AE (1993) Hereditary spastic paraplegias. [Review]. Semin Neurol 13:333–336

    Article  PubMed  CAS  Google Scholar 

  • Harding AE, Thomas PK (1980) Hereditary distal spinal muscular atrophy. J Neurol Sei 45:337–348

    Article  CAS  Google Scholar 

  • Hazan J, Lamy C, Melki J, Munnich A, de Recondo J, Weissenbach J (1993) Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nat Genet 5:163–167

    Article  PubMed  CAS  Google Scholar 

  • Hentati A, Bejaoui K, Pericak-Vance MA et al. (1994a) Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. Nat Genet 7:425–428

    Article  PubMed  CAS  Google Scholar 

  • Hentati A, Pericak-Vance MA, Hung WY et al. (1994b) Linkage of “pure” autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. Hum Mol Genet 3:1263–1267

    Article  PubMed  CAS  Google Scholar 

  • Hentati A, Pericak-Vance MA, Lennon F et al. (1994c) Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markets. Hum Mol Genet 3:1867–1871

    Article  PubMed  CAS  Google Scholar 

  • Kane JP, Havel RP (1995) Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins. In: Scriver CR, Beaudet AL, Sly WS (eds) The metabolic and molecular bases of inherited disease, vol 2. McGraw-Hill, New York, pp 1853

    Google Scholar 

  • Kennedy WR, Alter M, Sung JH (1968) Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. Neurology 18:671–680

    PubMed  CAS  Google Scholar 

  • Kobayashi T, Yamada T, Yasutake T, Shinnoh N, Goto I, Iwaki T (1994) Adrenoleukodystrophy geneencodes an 80 kDa membrane protein. Biochem Biophys Res Commun 201:1029–1034

    Article  PubMed  CAS  Google Scholar 

  • La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352:77–79

    Article  PubMed  Google Scholar 

  • La Spada AR, Roling DB, Harding AE et al. (1992) Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nat Genet 2:301–304

    Article  PubMed  CAS  Google Scholar 

  • Lefebvre S, Burglen L, Reboullet S et al. (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80:155–165

    Article  PubMed  CAS  Google Scholar 

  • Lewin B (1995) Genes for SMA: multum in parvo. Cell 80:1–5

    Article  PubMed  CAS  Google Scholar 

  • Melki J, Abdelhak S, Sheth P et al. (1990a) Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature 344:767–768

    Article  PubMed  CAS  Google Scholar 

  • Melki J, Sheth P, Abdelhak S et al. (1990b) Mapping of acute (type I) spinal muscular atrophy to chromosome 5ql2-ql4. The French spinal muscular atrophy investigators. Lancet 336:271–273

    Article  PubMed  CAS  Google Scholar 

  • Morrison KE Harding AE (1994) Disorders of the motor neurone. In: Harding AE (ed) Genetics in neurology, vol 3. Bailliere Tindall, London pp 431–445

    Google Scholar 

  • Moser HW (1995) Adrenoleukodystrophy. Curr Opin Neurol 8:221–226

    Article  CAS  Google Scholar 

  • Moser HW, Smith KD, Moser AB (1995). X-linked adrenoleukodystrophy. In: Scriver CR, Beaudet AL, Sly WS (eds) The metabolic and molecular bases of inherited disease, 7th edn, vol 2. McGraw-Hill, New York, pp 2325–2350

    Google Scholar 

  • Mosser J, Lutz Y, Stoeckel ME et al. (1994) The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein. Hum Mol Genet 3:265–271

    Article  PubMed  CAS  Google Scholar 

  • Mulder DW, Kurland LT, Offord KP, Beard CM (1986) Familial adult motor neuron disease: Amyotrophic lateral sclerosis. Neurology 36:511–517

    PubMed  CAS  Google Scholar 

  • Muller DPR, Lloyd JK, Wolff OH (1983) Vitamin E and neurological function. Lancet i:225–228

    Google Scholar 

  • Munsat TL (1991) Workshop report. International SMA collaboration. Neuromuscul Disord 1:81

    Article  Google Scholar 

  • Navon R, Khosravi R, Korczyn T et al. (1995) A new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype. Neurology 45:539–543

    PubMed  CAS  Google Scholar 

  • Osawa M, Keiko S (1991) Werdnig-Hoffmann disease and variants. In: Vinken PJ, Bruyn GW Klawans HL Handbook of Clinical Neurology, vol 15. Elsevier, Amsterdam, pp 51–80

    Google Scholar 

  • Ouahchi K, Arita M, Kayden H et al. (1995) Ataxia with isolated vitamin E deficiency is caused by mutations in the «-tocopherol transfer protein. Nat Genet 9:141–145

    CAS  Google Scholar 

  • Pearn J (1978a) Autosomal dominant spinal muscular atrophy: a clinical and genetic study. J Neurol Sci 38:263–275

    Article  PubMed  CAS  Google Scholar 

  • Pearn J (1978b) Segregation analysis of chronic childhood spinal muscular atrophy. J Med Genet 15:418–423

    Article  PubMed  CAS  Google Scholar 

  • Pearn J, Hudgson P (1979) Distal spinal muscular atrophy. A clinical and genetic study of 8 kindreds. J Neurol Sci 43:183–191

    Article  PubMed  CAS  Google Scholar 

  • Pearn JH (1973) The gene frequency of acute Werding-Hoffmann disease (SMA Type I) a total population survey in North East England. J Med Genet 10:260–265

    Article  PubMed  CAS  Google Scholar 

  • Pearn JP, (1978) Incidence, prevalence and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet 15:409–413

    Article  PubMed  CAS  Google Scholar 

  • Polo JM, Calleja J, Combarros O, Berciano J (1991) Hereditary ataxias and paraplegias in Cantabria,Spain. An epidemiological and clinical study. Brain 114:855–866

    Article  PubMed  Google Scholar 

  • Polo JM, Calleja J, Combarros O, Berciano J (1993) Hereditary “pure” spastic paraplegia: a study of nine families. J Neurol Neurosurg Psychiatry 56:175–181

    Article  PubMed  CAS  Google Scholar 

  • Powers JM (1985) Adreno-leukodystrophy (adreno-testiculo-leukomyelo-neuropathic-complex). Clin Neuropathol 4:181–199

    PubMed  CAS  Google Scholar 

  • Rader DJ, Brewer H Jr (1993) Abetalipoproteinemia. New insights into lipoprotein assembly and vitamin E metabolism from a rare genetic disease. JAMA 270:865–869

    CAS  Google Scholar 

  • Rosen DR (1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 364:362

    PubMed  CAS  Google Scholar 

  • Rowland LP (1994) Amyotrophic lateral sclerosis. Curr Opin Neurol 7:310–315

    Article  PubMed  CAS  Google Scholar 

  • Roy N, Mahadevan MS, McLean M et al. (1995) The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 80:167–178

    Article  PubMed  CAS  Google Scholar 

  • Sarde CO, Mosser J, Kioschis P et al. (1994) Genomic organization of the adrenoleukodystrophy gene. Genomics 22:13–20

    Article  PubMed  CAS  Google Scholar 

  • Sharp D, Blinderman L, Combs KA et al. (1993) Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia. Nature 365:65–69

    Article  PubMed  CAS  Google Scholar 

  • Siddique T, Figlewicz DA, Pericak-Vance MA et al. (1991) Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity. N Engl J Med 324:1381–1384

    Article  PubMed  CAS  Google Scholar 

  • Sobrevilla LA, Goodman ML, Kane CA (1964) Demyelinating central nervous system disease, macular atrophy and acanthocytosis (Bassen-Kornzweig syndrome) Am J Med 37:821–828

    PubMed  CAS  Google Scholar 

  • Strong MJ, Hudson AJ, Alvord WG (1991) Familial amyotrophic lateral sclerosis, 1850–1989: a statistical analysis of the world literature. Can J Neurol Sci 18:45–58

    PubMed  CAS  Google Scholar 

  • Troost J (1991) Spinal muscular atrophy of infantile and juvenile onset, due to metabolic derangement. In: PJ V, Bruyn GW Klawans HL (eds) Handbook of Clinical Neurology, vol 15. Elsevier Science Publishers, Amsterdam, pp 97–105.

    Google Scholar 

  • Vuopala K, Ignatius J, Herva R (1995) Lethal arthrogryposis with anterior horn cell disease. Hum Pathol 26:12–9

    Article  PubMed  CAS  Google Scholar 

  • Wallis J, Shaw J, Wilkes D et al. (1989) Prenatal diagnosis of Friedreich ataxia. Am J Med Genet 34:458–461

    Article  PubMed  CAS  Google Scholar 

  • Wanders RJ, van Roermund CW, Lageweg W et al. (1992) X-linked adrenoleukodystrophy: biochemical diagnosis and enzyme defect. J Inherit Metab Dis 15:634–644

    Article  PubMed  CAS  Google Scholar 

  • Willems PJ (1994) Dynamic mutations hit double figures. Nat Genet 8:213–215

    Article  PubMed  CAS  Google Scholar 

  • Xu Z, Cork LC, Griffin JW, Cleveland DW (1993) Increased expression of neurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron disease. Cell 73:23–33

    Article  PubMed  CAS  Google Scholar 

  • Zierz S, Zerres K (1991). Wohlfart-Kugelberg-Welander disease. In: PJ V, Bruyn GW Klawans HL Handbook of Clinical Neurology vol 15. Elsevier Science Publisher, Amsterdam, pp 81–96

    Google Scholar 

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Authors
  1. L. A. Bindoff
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  2. R. A. Shakir
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Editors and Affiliations

  1. Department of Neurology, Royal Preston Hospital, Sharoe Green Lane, Preston, PR2 4HT, UK

    Edmund Critchley DM, FRCP

  2. Vancouver General Hospital, 855 West 12th Avenue, Vancouver, BC, V5Z 1M9, Canada

    Andrew Eisen MD, FRCP(C)

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© 1997 Springer-Verlag London Limited

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Bindoff, L.A., Shakir, R.A. (1997). Inherited Diseases of the Spinal Cord. In: Critchley, E., Eisen, A. (eds) Spinal Cord Disease. Springer, London. https://doi.org/10.1007/978-1-4471-0911-2_26

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  • DOI: https://doi.org/10.1007/978-1-4471-0911-2_26

  • Publisher Name: Springer, London

  • Print ISBN: 978-1-4471-1233-4

  • Online ISBN: 978-1-4471-0911-2

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