A4T mutation in the SOD1 gene causing familial amyotrophic lateral sclerosis

Neuroepidemiology

Volumn 22, Issue 4, 2003, Pages 235-238

  Aksoy, Hatice ^a   Dean, Geoffrey ^b,g   Elian, Marta ^c   Deng, H X ^d   Deng, Gang ^d   Juneja, Tony ^d   Storey, Elsdon ^e   McKinlay Gardner, R J ^g   Jacob, Rebecca L ^f   Laing, Nigel G ^f   Siddique, Teepu ^d  

^a Turkish Republic of Northtern Cyprus   (Cyprus)

^b HEALTH RESEARCH BOARD   (Ireland)

^c CENTRAL MIDDLESEX HOSPITAL   (United Kingdom)

^d NORTHWESTERN UNIVERSITY   (United States)

^e MONASH UNIVERSITY   (Australia)

^f Australian Neuromuscular Research Institute   (Australia)

^g Box 1851 ^*

Author keywords

A4T; Large kindred; Lower motor neuron; Short survival; SOD1

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; AUSTRALIA AND NEW ZEALAND; CLINICAL ARTICLE; CLINICAL FEATURE; CYPRUS; DEATH; DISEASE COURSE; DISEASE SEVERITY; FAMILIAL DISEASE; FAMILY STUDY; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; HUMAN; LABORATORY TEST; LEG; MALE; MOTOR NEURON DISEASE; MULTIPLE SCLEROSIS; MUSCLE WEAKNESS; ONSET AGE; PHENOTYPE; PREDICTION; SYMPTOM; TURKEY (REPUBLIC);

ADULT; AGE OF ONSET; AGED; AMYOTROPHIC LATERAL SCLEROSIS; AUSTRALIA; CYPRUS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; SEVERITY OF ILLNESS INDEX; SUPEROXIDE DISMUTASE; SURVIVAL RATE; TURKEY;

EID: 0037942533     PISSN: 02515350     EISSN: None     Source Type: Journal    
DOI: 10.1159/000070564     Document Type: Article

References (13)

1. Emery AEH, Holloway S: Familial motor neuron disease; in Howland LP (eds): Human Motor Neuron Diseases. New York, Raven Press, 1982, pp 139-147.
2. Deng HX, Hentati A, Tainer JA, et al: Amyo-trophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. Science 1993;261:1047-1051.
3. Dean G, Elian M: Motor neuron disease and multiple sclerosis mortality in Australia, New Zealand and South Africa compared with England and Wales. J Neurol Neurosurg Psychiatry 1993;56;6:633-637.
4. Radunovic A, Leigh PN: Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: Correlation between genotype and clinical features. J Neurol Neurosurg Psychiatry 1996;61:565-572.
5. Juneja T, Pericak-Vance MA, Laing NG, et al: Prognosis in familial amyotrophic lateral sclerosis: Progression and survival in patients with glu100gly and ala4val mutations in Cu, Zn superoxide dismutase. Neurology 1997;48:55-57.
6. Cudkowicz ME, McKenna-Yasek D, Sapp PE, et al: Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol 1997;41:210-221.
7. Nakano R, Sato S, Inuzuka T, et al: A novel mutation in Cu/Zn superoxide dismutase gene in Japanese familial amyotrophic lateral sclerosis. Biochem Biophys Res Commun 1994;200: 695-703.
8. Deng HX, Tainer JA, Mitsumoto H, et al: Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis. Hum Mol Genet 1995;4:1113-1116.
9. Rosen DR, Bowling AC, Patterson D, et al: A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis. Hum Mol Genet 1994;3:981-987.
10. Mitsumoto H, Chad DA, Pioro EP: Amyotrophic Lateral Sclerosis. Contemporary Neurology Series, vol 49. Philadelphia, FA Davis Co, 1998.
11. Cudkowicz ME, McKenna-Yasek D, Chen C, et al: Limited corticospinal tract involvement in amyotrophic lateral sclerosis subjects with the A4V mutation in the copper/zinc superoxide dismutase gene. Ann Neurol 1998;43:703-710.
12. Ince PG, Tomkins J, Slade JY, et al: Amyotrophic lateral sclerosis associated with genetic abnormalities in the gene encoding Cu/Zn superoxide dismutase: Molecular pathology of five new cases and comparison with previous reports and 73 sporadic cases of ALS. J Neuropathol Exp Neurol 1998;57:895-904.
13. Norris F, Shepherd R, Denys E, et al: Onset, natural history and outcome in idiopathic adult motor neuron disease. J Neurol Sci 1993:118:48-55.