Familial Motor Neuron Disease

  • J. de Belleroche
  • P. N. Leigh
  • F. Clifford Rose

Abstract

Familial motor neuron disease (FMND) constitutes approximately 5%–10% of cases of motor neuron disease (MND). Whilst in most families the pattern of inheritance is consistent with an autosomal-dominant trait, with age-dependent penetrance, a few cases appear to show an autosomal-recessive mode of inheritance. Statistical analysis shows that the likelihood of chance aggregation is improbable because affected members span several generations, come from different environmental and geographical regions, and the condition does not develop in spouses.

Keywords

Dementia Superoxide Schizophrenia Selenium Neurol 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Appelbaum JS, Roos RP, Salazar-Grueso EF et al. (1992) Intrafamilial heterogeneity in hereditary motor neuron disease. Neurology 42: 1488–1492PubMedGoogle Scholar
  2. Arbizu T, Santamaria J, Gomez JM et al. (1983) A family with adult spinal and bulbar muscular atrophy, X-linked inheritance and associated testicular failure. J Neurol Sci 59: 371–382Google Scholar
  3. Beckman JS, Carson M, Smith CD (1993) ALS, SOD and peroxynitrite. Nature 364: 584Google Scholar
  4. Bowling AC, Schulz JB, Brown RH Jr et al. (1993) Superoxide dismutase activity, oxidative damage, and mitochondrial energy metabolism in familial and sporadic amyotrophic lateral sclerosis. J Neurochem 61: 2322–2325PubMedCrossRefGoogle Scholar
  5. Brown RH (1989) Gene analysis in familial amyotrophic lateral aclerosis: the problems and the prospects. Int ALS/MND Update 4: 13–15Google Scholar
  6. 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: 540–541PubMedCrossRefGoogle Scholar
  7. Camu W, Billiard M (1993) Coexistence of amyotrophic lateral sclerosis and Werdnig-Hoffmann disease within a family. Muscle Nerve May 1993: 569–570Google Scholar
  8. Chancellor AM, Warlow CP (1992) Adult onset motor neuron disease: worldwide mortality, incidence and distribution since 1950. J Neurol Neurosurg Psychiatry 55: 1106–1115PubMedCrossRefGoogle Scholar
  9. Chancellor AM, Swingler RJ, Fraser H et al. (1992) A prospective study of adult onset motor neuron disease in Scotland. Methodology, demography and clinical features of incident cases in 1989. J Neurol Neurosurg Psychiatry 55: 536–551CrossRefGoogle Scholar
  10. Chio A, Brignolio F, Meineri P et al. (1987) Phenotypic and genotypic heterogeneity of dominantly inherited amyotrophic lateral sclerosis. Acta Neurol Scand 75: 277–282PubMedCrossRefGoogle Scholar
  11. Choi W-T, MacLean HE, Chu S (1993) Kennedy’s disease: genetic diagnosis of an inherited form of motor neuron disease. Aust NZ J Med 23: 187–192CrossRefGoogle Scholar
  12. Constantinidis J, Richard J, Tissot R (1974) Pick’s disease: histological and clinical correlations. Eur Neurol 11: 208–217PubMedCrossRefGoogle Scholar
  13. Cote F, Collard JF, Julien P (1993) Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: a mouse model of amyotrophic lateral sclerosis. Cell 73: 35–46PubMedCrossRefGoogle Scholar
  14. Coyle JT, Puttfarcken P (1993) Oxidative stress, glutamate, and neurodegenerative disorders. Science 262: 689–695PubMedCrossRefGoogle Scholar
  15. Deng H-X, Hentati A, Tainer J A et al. (1993) Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. Science 261: 1047–1051PubMedCrossRefGoogle Scholar
  16. Doyu M, Sohue G, Mukai E et al. (1992) Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene. Ann Neurol 32: 707–710PubMedCrossRefGoogle Scholar
  17. Emery A, Holloway S (1982) Familial motor neurone disease. In: Rowland LP (ed.) Human motor neurone diseases. Raven Press, New York, pp 139–147Google Scholar
  18. Engel WK, Kurland LT, Latzo I (1959) An inherited disease similar to amyotrophic lateral sclerosis with a pattern of posterior column involvement: an intermediate form? Brain 82: 203–303PubMedCrossRefGoogle Scholar
  19. Finlayson MH, Guberman A, Martin JB (1973) Cerebral lesions in familial amyotrophic lateral sclerosis and dementia. Acta Neuropathol (Berlin) 26: 237–246CrossRefGoogle Scholar
  20. Garofalo O, Figlewicz DA, Leigh PN et al. (1993) Androgen receptor gene polymorphisms in amyotrophic lateral sclerosis. Neuromusc Disord 3: 195–199PubMedCrossRefGoogle Scholar
  21. Gilliam TC, Brzustowicz LM, Castilla LH et al. (1990) Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature 345: 823–825PubMedCrossRefGoogle Scholar
  22. Gunarsson L-G, Dahlbom K, Strandman E (1991) Motor neuron disease and dementia reported among 13 members of a single family. Acta Neurol Scand 84: 429–433CrossRefGoogle Scholar
  23. Harding AE, Bradbury PG, Murray NMF (1983) Chronic asymmetrical spinal muscular atrophy. J Neurol Sci 59: 69–83PubMedCrossRefGoogle Scholar
  24. Harding AE, Thomas PK, Baraitser M et al. (1982) X-linked recessive bulbospinal neuronopathy: a report of ten cases. J Neurol Neurosurg Psychiatry 45: 1012–1019PubMedCrossRefGoogle Scholar
  25. Hawkes CH, Cavanagh JB, Mowbray S (1984) Familial motor neurone disease: report of a family with 5 post-mortem studies. In: Clifford Rose F, (ed), Research progress in motor neuron disease. Pitman, London, pp 70–98Google Scholar
  26. Hayashi H, Kato S (1989) Total manifestations of amyotrophic lateral sclerosis ( ALS) in the totally locked-in state. J Neurol Sci 93: 19–35Google Scholar
  27. Hirano A, Kurland LT, Sayre GP (1967) Familial amyotrophic lateral sclerosis. Arch Neurol 16: 232–243PubMedGoogle Scholar
  28. Hirano A (1991) Cytopathology of amyotrophic lateral sclerosis. In: Rowland LP (ed.) Amyotrophic lateral sclerosis and other motor neuron diseases. Raven Press, New York, pp 91–101 (Advances in neurology 56 )Google Scholar
  29. Horton WA, Eldridge R, Brody JA (1976) Familial motor neuron disease. Neurology 26: 460–465PubMedGoogle Scholar
  30. Hudson A J (1981) Amyotrophic lateral sclerosis and its association with dementia, parkinsonism, and other neurological disorders: a review. Brain 104: 217–253PubMedCrossRefGoogle Scholar
  31. Igarashi S, Tanno Y, Onodera O, et al. (1992) Strong correlation between the number of CAG repeats in androgen receptor genes and the clinical onset of features of spinal and bulbar muscular atrophy. Neurology 42: 2300–2303PubMedGoogle Scholar
  32. Jeffreys AJ, Brookfield JFY, Semeonoff R (1985) Positive identification of an immigration test-case using human DNA fingerprinting. Nature 317: 818–819PubMedCrossRefGoogle Scholar
  33. Jokelainen M (1977) Amyotrophic lateral sclerosis in Finland. I. An epidemiological study. Acta Neurol Scand 56: 185–193PubMedCrossRefGoogle Scholar
  34. Kennedy W, Alter M, Sung K (1968) Progressive proximal spinal and bulbar muscular atrophy of late onset: a sex-linked recessive trait. Neurology 18: 671–680PubMedGoogle Scholar
  35. Kew J, Leigh N (1992) Dementia with motor neuron disease. In: Rossor MN (ed.) Unusual dementias, Bailliere Tindall, London (Baillieres clinical neurology 1(3)Google Scholar
  36. King A, de Belleroche J (1991) Molecular genetics of familial motor neurone disease: studies in the UK. Cytogenet Cell Genet. 58: 2100–2101Google Scholar
  37. King, A, Houlden H, Hardy J, Lane R, Chancellor A, de Belleroche J (1993) Absence of linkage between chromosome 21 loci familial amyotrophic lateral sclerosis. J Med Genet 30: 318Google Scholar
  38. King A, Orrell R, Lane R, de Belleroche J (1994) More than one locus for familial amyotrophic lateral sclerosis: absence of linkage to the SMA locus. Biochem Soc Trans 22: 1495Google Scholar
  39. Kusaka H, Imai T, Hashimoto T et al. (1988) Ultrastructural study of chromatolytic neurons in an adult-onset sporadic case of amyotrophic lateral sclerosis. Acta Neuropathol (Berlin) 75: 523–528CrossRefGoogle Scholar
  40. La Spada AR, Wilson EM, Lubahn EB et al. (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352: 77–79PubMedCrossRefGoogle Scholar
  41. Leigh PN, Whitwell H, Garofalo O et al. (1991) Ubiquitin-immunoreactive intraneuronal inclusions in amyotrophic lateral sclerosis: morphology, distribution and specificity. Brain 114: 775–788PubMedCrossRefGoogle Scholar
  42. Li T-M, Alberman E, Swash M (1988) Comparison of sporadic and familial disease amongst 580 cases of motor neuron disease. J Neurol Neurosurg Psychiatry 51: 778–784PubMedCrossRefGoogle Scholar
  43. Lien LY, Boyce FM, Kleyn P et al. (1991) Mapping of human microtubule-associated protein IB in proximity to the spinal muscular atrophy locus at 5ql3. Proc Natl Acad Sci USA 88: 7873–7876PubMedCrossRefGoogle Scholar
  44. McNamara JO, Fridovich I (1993) Did radicals strike Lou Gehrig? Nature 362: 20–21PubMedCrossRefGoogle Scholar
  45. Melki J, Sheth P, Abdelhak S et al. (1990a) Mapping of acute (type 1) spinal muscular atrophy to chromosome 5ql2–ql4. Lancet 336: 271–273PubMedCrossRefGoogle Scholar
  46. Melki J, Abdelhak S, Sheth P et al. (1990b) Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature 344: 767–768PubMedCrossRefGoogle Scholar
  47. Mhatre AN, Trifiro MA, Kaufman M et al. (1993) Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy. Nature Genet 5: 184–188PubMedCrossRefGoogle Scholar
  48. Mitchell JD, Jackson MJ (1992) Free radicals, amyotrophic lateral sclerosis, and neurodegenerative disease. In: Smith RA (ed.) Handbook of amyotrophic lateral sclerosis. Marcel Dekker, New York, pp 533–541Google Scholar
  49. Mizutani T, Sakamaki S, Tsuchiya N et al. (1992) Amyotrophic lateral sclerosis with ophthalmoplegia and multisystem degeneration in patients on long–term use of respirators. Acta Neuropathol 84: 372–377PubMedCrossRefGoogle Scholar
  50. Mulder DW, Kurland LT, Otford KP (1986) Familial adult motor neuron disease: amyotrophic lateral sclerosis. Neurology 36: 511–517PubMedGoogle Scholar
  51. Murayama S, Okawa Y, Mori H et al (1989) Immunocytochemical and ultrastructural study of Lewy body-like hyaline inclusions in familial amyotrophic lateral sclerosis. Acta Neuropathol 78: 143–152PubMedCrossRefGoogle Scholar
  52. Murros K, Fogelholm R (1983) Amyotrophic lateral sclerosis in middle Finland: an epidemiological study. Acta Neurol Scand 67: 41–47PubMedCrossRefGoogle Scholar
  53. Nakamura Y, Leppert M, O’Connell P et al. (1987) Variable number of tandem repeat ( VNTR) markers for human genetic mapping. Science 235: 1616–1622PubMedCrossRefGoogle Scholar
  54. Neary D, Snowden JS, Mann DMA et al. (1990) Frontal lobe dementia and motor neuron disease. J Neurol Neurosurg Psychiatry 53: 23–32PubMedCrossRefGoogle Scholar
  55. Okamoto K, Murakami N, Kusaka H et al. (1992) Ubiquitin–positive intraneuronal inclusions in the extramotor cortices of presenile dementia patients with motor neuron disease. J Neurol 239: 426–430PubMedCrossRefGoogle Scholar
  56. Orr HT, Chung M, Banfi S et al. (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet 4: 221–226PubMedCrossRefGoogle Scholar
  57. Robertson EE (1953) Progressive bulbar paralysis showing heredofamilial incidence and intellectual impairment. Arch Neurol Psychiatry 69: 197–207Google Scholar
  58. Rosen DR, Siddique T, Patterson D et al. (1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362: 59–62PubMedCrossRefGoogle Scholar
  59. Ross CA, Mclnnis MG, Margolis RL, Li S–H (1993) Genes with triplet repeats: candidate mediators of neuropsychiatric disorders. TINS 7: 254–260Google Scholar
  60. Rothstein JD, Jin L, Dykes-Hoberg M et al. (1993) Chronic inhibition of glutamate uptake produces a model of slow neurotoxicity. Proc Natl Acad Sci USA 90: 6591–6595PubMedCrossRefGoogle Scholar
  61. Shaw PJ, Ince PG, Goodship J (1992) Adult-onset motor neuron disease and infantile Werdnig-Hoffmann disease (spinal muscular atrophy type 1) in the same family. Neurology 42: 1477–1480PubMedGoogle Scholar
  62. Siddique T, Pericak-Vance MA, Brook BR, et al. (1989) Linkage analysis in familial amyotrophic lateral sclerosis. Neurology 39: 919–926PubMedGoogle Scholar
  63. 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: 1381–1384PubMedCrossRefGoogle Scholar
  64. Sobue G, Hashizuma Y, Mukai E et al. (1989) X-linked bulbospinal neuronopathy. A clinicopathological study. Brain 112: 209–232PubMedCrossRefGoogle Scholar
  65. Swash M, Leigh N (1992) Workshop report. Criteria for diagnosis of familial amyotrophic lateral sclerosis. Neuromusc Disorders 2: 7–9Google Scholar
  66. Swash M, Scholtz CL, Vowles G et al. (1988) Selective and asymmetric vulnerability of corticospinal and spinocerebellar tracts in motor neuron disease. J Neurol Neurosurg Psychiatry 51: 785–789PubMedCrossRefGoogle Scholar
  67. Ting-Ming L, Alberman E, Swash M (1988) Comparison of sporadic and familial disease amongst 580 cases of motor neuron disease. J Neurol Neurosurg Psychiatry 51: 778–784CrossRefGoogle Scholar
  68. Troost J (1991) Spinal muscular atrophy of infantile and juvenile onset, due to metabolic derangement. In: de Jong JMBV (ed.) Diseases of the motor system. Elsevier, Amsterdam, pp 97–105 (Handbook of clinical neurology 59 )Google Scholar
  69. Troy CM, Muma NA, Greene LA et al. (1990) Regulation of peripherin and neurofilament expression in regenerating rat motor neurons. Brain Res 529: 232–238PubMedCrossRefGoogle Scholar
  70. Veltema AN, Roos RAC, Bruyn GW (1990) Autosomal dominant adult amyotrophic lateral sclerosis. A six generation Dutch family. J Neurol Sci 97: 93–115Google Scholar
  71. Warner CL, Griffin JE, Wilson JD (1992) X-linked spinomuscular atrophy: a kindred with associated abnormal androgen receptor binding. Neurology 42: 2181–2184PubMedGoogle Scholar
  72. Weber JL, May PE (1989) Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 44: 388–396PubMedGoogle Scholar
  73. Wightman G, Anderson VER, Martin J et al. (1992) Hippocampal and neocortical ubiquitin-immuno-reactive inclusions in ALS with dementia. Neurosci Lett 139: 269–274PubMedCrossRefGoogle Scholar
  74. Williams C, Kozlowski MA, Hinton DR et al. (1990) Degeneration of spinocerebellar neurons in amyotrophic lateral sclerosis. Ann Neurol 27: 215–225PubMedCrossRefGoogle Scholar
  75. Williams DB, Floate A, Leicester J (1988) Familial motor neuron disease: differing penetrance in large pedigrees. J Neurol Sci 86: 215–230PubMedCrossRefGoogle Scholar
  76. Willis CL, Meldrum BS, Nunn PB et al. (1993) Neuronal damage induced by 3-N-oxalylamino-L-alanine (BOAA) in rat hippocampus can be prevented by a non-NMDA antagonist, 2,3-dihydroxy-6-nitro- 7-sulfamoyl-benzo(F)quinoxaline ( NBQX ). Brain Res 627: 55–62Google Scholar
  77. Xu Z, Cork LC, Griffin JW et al. (1993) Increased expression of neurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron disease. Cell 73: 23–33PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag London Limited 1995

Authors and Affiliations

  • J. de Belleroche
  • P. N. Leigh
  • F. Clifford Rose

There are no affiliations available

Personalised recommendations