Clinical analysis of familial amyotrophic lateral sclerosis: Review of literature;Etude clinique des formes familiales de sclerose laterale amyotrophique : Revue de la litterature

Revue Neurologique

Volumn 153, Issue 5, 1997, Pages 314-324

  Moulard, B ^a   Camu, W ^a   Malafosse, A ^b   Billiard, M ^a   Baldy Moulinier, M ^a  

^a GUI DE CHAULIAC HOSPITAL   (France)

^b GENEVA UNIVERSITY HOSPITALS   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CLINICAL FEATURE; FAMILIAL DISEASE; GENETIC SUSCEPTIBILITY; HUMAN; ONSET AGE; PENETRANCE;

AGE FACTORS; AMYOTROPHIC LATERAL SCLEROSIS; CAUSALITY; HUMANS;

EID: 0030751103     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (74)

1. ALTER M., SCHAUMANN B. (1976). Hereditary amyotrophic lateral sclerosis. A report of two families. Eur Neurol, 14 : 250-265.
2. 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., HAYDEN M.R. (1993). The relationships between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nature Genet, 4 : 398-403.
3. AOKI M., OGASAWARA M., MATSUBARA Y., NARISAWA K., NAKAMURA S., ITOYAMA Y., ABE K. (1994). Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene: a possible new subtype of familial ALS. J Neurol Sci, 126 : 398-403.
4. ARAN FA. (1850). Recherche sur une maladie non encore décrite du système musculaire (atrophie musculaire progressive). Arch Gén de Méd, 24 : 5-35 et 172-214.
5. ASHIZAWA T., DUBEL J.R., DUNNE P.W., DUNNE C.J., Fu Y.H., PIZZUTI A., CASKEY C.T., BOERWINKLE E., PERRYMAN M.B., EPSTEIN H.F., HEJTMANCIK J.F. (1992). Anticipation in myotonic dystrophy. II. Complex relationships between clinical findings an structure of the CTG repeat. Neurology, 42 : 1877-1883.
6. BECKMAN J.S., CARSON M., SMITH C.D., KOPPENOL W.H. (1993). ALS, SOD and peroxynitrite. Nature, 364 : 584.
7. BEN HAMIDA M., HENTATI F., BEN HAMIDA C. (1990). Hereditary motor neuron diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrom with limb and bulbar amyotrophy. Brain, 113 : 347-363.
8. BORCHELT D.R., LEE M.L., SLUNT H.S., GUARNIERI M., Xu Z.S., WONG P.C., BROWN R.H., PRICE D.L., SISODIA S.S., CLEVELAND D.W. (1994). Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity. Proc Natl Acad Sci, 91 : 8292-8296.
9. BOWLING A.C., BARKOWSKI E.E., MCKENNA-YASEK D., SAPP P., HORVITZ H.R., BROWN R.H. JR. (1995). Superoxide dismutase concentration and activity in familial amyotrophic lateral sclerosis. J Neurochem, 64 : 2366-2369.
10. CHARCOT J.M. (1974). De la sclérose latérale amyotrophique : symptomatologie. Prog Méd, 29 : 453-455.
11. CHIO A., BRIGNOLIO F., MEINERI P., SCHIFFER D. (1987). Phenotypic and genotypic heterogeneity of dominantly inherited amyotrophic lateral sclerosis. Acta Neurol Scand, 75 : 277-282.
12. CRAUFURD D., DODGE A. (1993). Mutation size and age at onset in Huntington's disease. J Med Genet, 30 : 1008-1011.
13. DE BELLEROCHE J., ORREL R., KING A. (1995). Familial amyotrophic lateral sclerosis/motor neurone disease (FALS): a review of current developments. J Med Genet, 32 : 841-847.
14. DENG H.X., HENTATI A., TAINER J.A., IQBAL Z., CAYABYAB A., HUNG W.Y., GETZOFF E.D., Hu P., HERZFELDT B., Roos R.P., WARNER C., DENG G., SORIANO C., SMYTH C., PARGE H.E., AHMED A., ROSES A.D., HALLEWELL R.A., PERICAK-VANCE M., SIDDIQUE T. (1993). Amyotrophic lateral sclerosis and structural defects in Cu, Zn superoxide dismutase. Science, 261 : 1047-1050.
15. DRACHMAN D.B., KUNEL R.W. (1989). Amyotrophic lateral sclerosis: an unconventionnal autoimmune disease? Ann Neurol, 26 : 269-274.
16. DUBOURG O., DÜRR A., CANCEL G., DTEVANIN M.S., CHNEIWEISS H., PENET C., AGID Y, BRICE A. (1995). Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations. Ann Neurol, 37 : 176-180.
17. DUMON J., MACKEN J., DE BARSY T. (1971). Concordance for amyotrophic lateral sclerosis in a pair of dizigous twins of consanguineous parents. J Med Genet, 8 : 113-116.
18. ENAYAT Z.E., ORREL R.W., CLAUS A., LUDOLPH A., BACHUS R., BROCKMÜLLER J., RAY-CHAUDHURI K., RADUNOVIC A., SHAW C., WILKINSON J., KING A., SWASH M., LEIGH P.N., DE BELLEROCHE J., POWELL J. (1995). Ywo novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis. Hum Mol Genet, 4 : 1239-1240.
19. ESTRIN W.J. (1977). Amyotrophic lateral sclerosis in dizygotic twins. Neurology, 27 : 692-694.
20. FAVERET C. (1959). La sclérose latérale amyotrophique familiale. Étude conjointe des problèmes des scléroses latérales amyotrophiques juvéniles. Thèse Doctorat en Médecine. Paris.
21. FINLAYSON M.H., GUBERMAN A., MARTIN J.B. (1973). Cerebral lesions in familial amyotrophic lateral sclerosis and dementia. Acta Neuropathologica, 26 : 237-246.
22. GARDNER J.H., FELDMAHN A. (1966). Hereditary adult motor neuron disease: report of 154-year genealogy with 18 cases. Trans Am Neurol Assoc. 91 : 239-241.
23. HABERLANDT W.F. (1961). Aspects génétiques de la sclérose latérale amyotrophique. World Neurol, 2 : 356-362.
24. HENTATI A., BEJAOUI K., PERICAK-VANCE M.A., HENTATI F., SPEER M.C., HUNG W.Y., FIGLEWICZ D.A., HAINES J., RIMMLER J., BEN HAMIDA C., BEN HAMIDA M., BROWN R.H. JR, SIDDIQUE T. (1994). Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. Nature Genet, 7 : 425-428.
25. HESTNES A., MELLGREN S.I. (1980). Familial amyotrophic lateral sclerosis: report of a family with predominant upper limb paresis and late onset. Acta Neurol Scand, 61 : 192-199.
26. HORTON W.A., ELDRIDGE L., BRODY J.A. (1976). Familial motor neuron disease. Evidence for at least three types. Neurology, 26 : 460-465.
27. HUSDON A.J. (1981). Amyotrophic lateral sclerosis and its association with dementia, Parkinsonism and other neurological disorders. Brain, 104 : 217-247.
28. HUSQUINET H., FRANCK G. (1980). Hereditary amyotrophic lateral sclerosis transmitted for five generations. Clin Genet, 18 : 109-115.
29. IKEDA M., ABE K., AOKI M., SAHARA M., WATANABE M., SHOJI M., ST GEORGE-HYSLOP P.H., HIRAI S., ITOYAMA Y. (1995). Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the superoxide dismutase gene. Neurology, 45 : 2038-2042.
30. KAWAMATA J., HASEGAWA H., SHIMOHAMA, KIMURA J., TANAKA S., UEDA K. (1994). Leu106 -> Val (CTC -> GTC) mutation of superoxide dismutase 1 gene in patient with familial amyotrophic lateral sclerosis in Japan. Lancet, 343 : 1501.
31. KING A., HOULDEN H., HARDY J., LANE R., CHANCELLOR A., DE BELLEROCHE J. (1993). Absence of linkage between chromosome 21 loci and familial amyotrophic latera sclerosis. J Med Gen, 30 (4) : 318.
32. KNUDSON A.G. (1971). Mutation and cancer : statistical study of retinoblastoma. Proc Natl Acad Sci (USA), 68 : 820-823.
33. n mutation: two families with discordant MZ twins. Am J Hum Genet, 54 : 437-442.
34. KURLAND L.T., MULDER D.W. (1955). Epidemiological investigations of amyotrophic lateral sclerosis. Familial aggregations indicative of dominant inheritance. Neurology, 5 : 182-196 (part I) and Neurology, 5 : 249-268 (part II).
35. KURLAND L.T., MULDER D.W. (1955). Epidemiological investigations of amyotrophic lateral sclerosis. Familial aggregations indicative of dominant inheritance. Neurology, 5 : 182-196 (part I) and Neurology, 5 : 249-268 (part II).
36. LEONE M. (1991). parental sex effect in familial amyotrophic lateral sclerosis. Neurology, 41 (8) : 1292-1294.
37. LEONE M., DE ANGELIS M.S., GIORDANO M., MUTANI R. (1994). Influence of ancestral gender on transmission of familial amyotrophic lateral sclerosis. Lancet, 344 : 1639. Familial progressive bulbar spinal muscular atrophy. Neurology, 10 : 295-305.
38. LEONE M., DE ANGELIS M.S., GIORDANO M., MUTANI R. (1994). Influence of ancestral gender on transmission of familial amyotrophic lateral sclerosis. Lancet, 344 : 1639. Familial progressive bulbar spinal muscular atrophy. Neurology, 10 : 295-305.
39. MAJOOR-KRAKAUER D., OTTMAN R., JOHNSON W.G., ROWLAND L.P. (1994). Familial aggregation of ALS, dementia, and Parkinson's disease: evidence for shared genetic susceptibility. Neurology, 44 : 1872-1877.
40. MARINEAU C., MÉREL P., ROULEAU G.A., THOMAS G. (1995). Le gène de la neurofibromatose de type 2. Médecine/Sciences, 11 : 35-42.
41. MAURELLI M., MARCHIONI E., BOSONE D., BONI S., BOLZANI W., CERRETANO R., SIMONETTI F., SALVODI F. (1992). Familial adult amyotrophic lateral sclerosis: report of cases. It J Neurol Sci, Feb 13 (1) : 75-79
42. METCALF C.W., HIRANO A. (1971). Amyotrophic lateral sclerosis: clinicopathological studies of a family. Arch Neurol, 24 : 518-523.
43. MITCHELL J.D., JACKSON M.J. (1992). Free radicals, amyotrophic lateral sclerosis and neurodegenerative disease. In : Smith R.A., ed. Handbook of amyotrophic lateral sclerosis. New York : Marcel Dekker, pp. 1292-1294.
44. MULDER D.W., KURLAND L.T., OFFORD K.P., BEARD C.M. (1986). Familial adult motor neuron disease: amyotrophic lateral sclerosis. Neurology, 36 : 511-517.
45. OGASAWARA M., MATSUBARA Y., NARISAWA K., AOKI M., NAKAMURA S., ITOYAMA Y., ABE K. (1993). Mild ALS in Japan associated with novel mutation. Nature Genetics, 5 : 323-324.
46. ORRELL R.W., KING A.W., DE BELLEROCHE J.S. (1995b). Parental influence on inheritance of familial amyotrophic lateral sclerosis. Lancet, 345 : 391-392.
47. ORRELL R.W., KING A.W., DE BELLEROCHE J.S. (1995a). Familial amyotrophic lateral sclerosis with a point mutation of SOD1: intrafamilial heterogeneity of disease duration with neurofibrillar tangles. J Neurol Neurosurg Psychiatry, 59 : 266-270.
48. PAYAMI H., BERNARD M.S., LARSEN B.A., KAYE J., NUTT J. (1995). Genetic anticipation in Parkinson's disease. Neurology, 45 : 135-138.
49. PINSKY L., FINLAYSON M.H., LIBMAN I., SCOTT B.H. (1975). Familial amyotrophic lateral sclerosis with dementia: a second Canadian family. Clin Genet, 7 : 186-191.
50. POTTER N.T., MEYER M.A., ZIMMERMAN A.W., EISENSTADT M.L., ANDERSON I.J. (1995). Molecular and clinical findings in a family with dentatorubral-pallidoluydian atrophy. Ann Neurol, 37 : 273-277.
51. PRADAS J., FINISON L., ANDRES P.L., THORNELL B., HOLLANDER D., MUNSAT T.L. (1993). The natural history of familial amyotrophic lateral sclerosis and the use of natural history controls intherapeutic trials. Neurology, 43 : 751-755.
52. PRAMTAROVA A., FIGLEWICZ D.A., KRIZUS A., HAN F.Y., CEBALLOS-PICOT I., NICOLE A., DIB M., MEININGER V., BROWN R.H., ROULEAU G. (1995). Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis. Am J Hum Genet, 56 : 592-596.
53. PRAMTAROVA A., GUTO J., NAMBA E., NAKASHIMA K., TAKAHASHI K., TAKAGI A., KANAZAWA I., FLIGLEWICZ D.A., ROULEAU G. (1994). A two basepair deletion in the SOD1 gene causes familial amyotrophic lateral sclerosis. Hum Mol Genet, 3 : 2061-2062.
54. PULST S.M., NECHIPORUK A., STARKMAN S. (1994). Anticipation in spinocerebellar ataxia type 2. Nature Genet, 5 : 8-10.
55. RABIZADEH S., GRALLA E.B., BORDELT D.R., GWINN R., VALENTINE J.S., SISODIA S., WONG P., LEE M., HAHN H., BREDESEN D.E. (1995). Mutations associated with amyotrophic lateral sclerosis convert superoxide dismutase from an antiapoptotic gene to a proapoptotic gene: studies in yeast and neural cells. Proc Natl Acad Sci, 92 : 3024-3028.
56. RAINERO I., PINESSI L., TSUDA T., VIGNOCCI M.G., VAULA G., CALVI L., CERRATO P., ROSSI B., BERGAMINI L., CRAPPER MC LACHLAN D.R., ST GEORGE-HYSLOP P.H. (1994). SOD1 missense mutation in an Italian family with amyotrophic lateral sclerosis. Neurology, 44 : 347-349.
57. RICHARD S., OLSCHWANG S., CHAUVEAU D., RESCHE F. (1995). La maladie de Von Hippel Lindau. Médecine/Sciences, 11 : 43-51.
58. ROBBERRECHT W., SAPP P., VIAENE M.K., ROSEN D., MCKENNA-YASEK D., HAINES J., HORVITZ R., THEYS P., BROWN R.H. JR (1994). Cu/Zn superoxide dismutase activity in familial and sporadic amyotrophic lateral sclerosis. J Neurochem, 62 : 384-387.
59. ROBERTSON E.E. (1953). Progressive bulbae paralysis showing heredofamilial incidence and intellectual impairment. Arch Neurol and Psych, 69 : 197-207.
60. ROSEN D.R., BOWLING A.C., PATERSON D., USDIN T.B., SAPP P., MEZEY E., MCKENNA-YASEK D., O'REGAN J., RAHMANI Z., FERRANTE R.J., BROWNSTEIN M.J., KOWALL N.W., BEAL M.F, HORVITZ H.R., BROWN R.H. JR (1994). A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis. Hum Mol Genet, 3 : 981-987.
61. ROSEN D.R., SIDDIQUE T, PATTERSON D., FIGLEWICZ D.A., SAPP P., HETATI A., DONALDSON D., GOTO J., O'REGAN J.P., DENG H.X., RAHMANI Z., KRIZUS A., MCKENNA-YASEK D., CAYABYAB A., GASTON S.M., BERGER R., TANZI R.E., HALPERIN J.J., HERZFELDT B., VAN DEN BERGH R., HUNG W.Y, BIED T., DENG G., MULDER D.W., SMYTH C., LAING N.G., SORIANO E., PERICAK-VANCE M.A., HAINES J., ROULEAU G.A., GUSELLA G.F., HORVITZ H.R., BROWN R.H. JR (1993). IMutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature, 362 (6415) : 59-62.
62. SALUS F. (1995). Beiträge zur Lehre von der amyotrophischen Lateralsklerose. Ein Ecklärungsversuch über die endogene Entstehungsweise. Archiv für Psychiatrie und nervenkrankheit, 104 : 66-88.
63. SCHMITT H.P., EMSER W., HEIMES C. (1984). Familial occurrence of amyotrophic lateral sclerosis, Parkinson and dementia. Ann Neurol, 16 : 642-648.
64. SEQUEIROS J., COUTINHO P. (1993). Epidemiology and clinical aspects of Machdo-Joseph disease. In: Harding A.E., Deufel T. (eds) Inherited ataxias. Vol 61 in Advances in neurology. Raven, New York, pp. 139-153.
65. SERCL M., KOVARIK J. (1963). On the familial incidence of amyotrophic lateral sclerosis. Acta Neurol Scand, 39 : 169-176.
66. SIDDIQUE T., FIGLEWICZ D.A., PERICAK-VANCE M.A., HAINES J.L., ROULEAU G., JEFFETS A.J., SAPP P., HUNG W.Y., BEBOUT J., MCKENNA-YASEK D., DENG G., HORVITZ H.R., GUSELLA J.F., BROWN R.H. JR, ROSES A.D. (1991). Linkage of a gene causing familial amyotrophic lateral sclerosis and evidence for locus heterogeneity. N Engl J Med, 324 (20) : 1381-1384.
67. STRONG M.J., HUSDON A.J., ALVORD W.G. (1991). Familial amyotrophic lateral sclerosis, 1850-1989: a statistical analysis of the world literature. Canadian J Neurol Sci, 18 (1) : 45-58.
68. SWASH M., LEIGH N. (1992). Workshop Report. Criteria for diagnosis of familial amyotrophic lateral sclerosis. Neuromusc Disord, 2 : 7-9.
69. TSUDA T., MUNTHAUSSER S., FRASER P.E., PERCY M.E., RAINERO I., VAULA G., PINESSI L, BERGAMINI L., VIGNOCCHI G., CRAPPER MC LACHLAN D.R., TATTON W.G., ST GEORGE-HYSLOP P. (1994). Analysis of the functional effects of a mutation in SOD1 associated with familial amyotrophic lateral sclerosis. Neuron, 13 : 727-736.
70. VAN BOGAERT L., RADERMECKER M.A. (1954). Scléroses latérales amyotrophiques typiques et paralysies agitantes héréditaires, dans une même famille, avec une forme de passage possible entre les deux affections. Monatsch Psychiatr Neurol, 127 : 185-203.
71. WIEDAU-PAZOS M., GOTO J.J., RABIZADEH S., GRALLA E.B., ROE J.A., LEE M.K., VALENTINE J.S., BREDESEN D.E. (1996). Altered reactivity of superoxide dismutase in familial amyotrophic lateral sclerosis. Science, 271 : 515-518.
72. WILHELMSEN K.C., LYNCH T., PAVLOU E., HIGGINS M., NYGAARD T.G. (1994). Localization of Disinhibition-Dementia-ParkinsonismAmyotrophy to 17q21-22. Am J Hum Genet, 55 : 1159-1165.
73. WILLIAMS D.B., FLOATE D.A., LEICESTER J. (1988). Familial motor neuron disease: differing penetrance in large pedigrees. J Neurol Sci, 36 : 215-230.
74. YVONNEAU M., VITAL C., BELLY C., COQUET M. (1971). Syndrome familial de sclérose latérale amyotrophique avec démence. Encéphale, 60 : 449-462.