N19S, a new SOD1 mutation in sporadic amyotrophic lateral sclerosis: No evidence for disease causation

Annals of Neurology

Volumn 53, Issue 6, 2003, Pages 815-818

  Mayeux, Véronique ^a   Corcia, Philippe ^b   Besson, Gérard ^c   Jafari Schluep, Hélène Farnase ^d   Briolotti, Valérie ^a   Camu, William ^a,d,e  

^a Institut de Biologie   (France)

^b UNIVERSITY HOSPITAL OF TOURS   (France)

^c GRENOBLE UNIVERSITY HOSPITAL   (France)

^d MONTPELLIER UNIVERSITY HOSPITAL   (France)

^e GUI DE CHAULIAC HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE;

ADULT; AGED; ALLELE; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CODON; CONTROLLED STUDY; DISEASE COURSE; EVIDENCE BASED MEDICINE; FAMILIAL DISEASE; FAMILY STUDY; FEMALE; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NEUROLOGIC EXAMINATION; NUCLEIC ACID BASE SUBSTITUTION; ONSET AGE; PHYLOGENETIC TREE; PRIORITY JOURNAL; RELATIVE;

ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; AMYOTROPHIC LATERAL SCLEROSIS; FEMALE; GENE EXPRESSION; HETEROZYGOTE DETECTION; HUMANS; MALE; MIDDLE AGED; PEDIGREE; POINT MUTATION; SUPEROXIDE DISMUTASE;

EID: 0038443027     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10605     Document Type: Article

References (14)

1. Cudkowicz ME, Brown RH Jr. An update on superoxide dismutase 1 in familial amyotrophic lateral sclerosis. J Neurol Sci 1996;139(suppl):10-15.
2. 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.
3. Gaudette M, Hirano M, Siddique T. Current status of SOD1 mutations in familial amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2000;1:83-89.
4. Andersen PM. Genetic factors in the early diagnosis of ALS. Amyotroph Lateral Scler Other Motor Neuron Disord 2000;1(suppl):S31-S42.
5. Andersen PM, Nilsson P, Ala-Hurula V, et al. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. Nat Genet 1995;10:61-66.
6. Andersen PM, Forsgren L, Binzer M, et al. Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala. CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients. Brain 1996;119:1153-1172.
7. Al-Chalabi A, Andersen PM, Chioza B, et al. Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor. Hum Mol Genet 1998;7:2045-2050.
8. Hand CK, Mayeux-Portas V, Khoris J, et al. Compound hererozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family. Ann Neurol 2001;49:267-271.
9. Orrell RW. Amyotrophic lateral sclerosis: copper/zinc superoxide dismutase (SOD1) gene mutations. Neuromuscul Disord 2000;10:63-68.
10. Robberecht W, Aguirre T, Van den Bosch L, et al. D90A hererozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis. Neurology 1996;47:1336-1339.
11. Deng HX, Hentati A, Tainer JA, et al. Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. Science 1993;261:1047-1051.
12. Banci L, Benedetto M, Bertini I, et al. Solution structure of reduced monomeric Q133M2 copper, zinc superoxide dismutase (SOD). Why is SOD a dimeric enzyme? Biochemistry 1998;37:11780-11791.
13. Getzoff ED, Tainer JA, Stempien MM, et al. Evolution of Cu/Zn superoxide dismutase and greek key beta-barrel structural motif. Proteins 1989;5:322-336.
14. Tainer JA, Getzoff ED, Beem KM, et al. Determination and analysis of the 2 A-structure of copper, zinc superoxide dismutase. J Mol Biol 1982;160:181-217.