D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis

Neurology

Volumn 47, Issue 5, 1996, Pages 1336-1339

  Robberecht, W ^a   Aguirre, T ^a   Van Den Bosch, L ^a   Tilkin, P ^b   Cassiman, J J ^a   Matthijs, G ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b Gasthuisberg ^*

Author keywords

[No Author keywords available]

Indexed keywords

SUPEROXIDE DISMUTASE;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CASE REPORT; CONTROLLED STUDY; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; MALE; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL;

EID: 0029854883     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.47.5.1336     Document Type: Article

References (9)

1. Rosen DR, Siddique T, Patterson D, et al. Mutations in Cu/Zn Superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993;362:59-62.
2. Aguirre T, Robberecht W, Matthijs G. Identification of a new missense point mutation in CuZn Superoxide dismutase gene in a case of familial amyotrophic lateral sclerosis [abstract]. Med Genet 1995;2:184.
3. Andersen PM, Nilsson P, Veli A-H, et al. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. Nature Genet 1995;10:61-66.
4. Själander A, Beckman G, Deng H-X, Iqbal Z, Tainer JA, Siddique T. The D90A mutation results in a polymorphism of Cu,Zn Superoxide dismutase that is prevalent in northern Sweden and Finland. Hum Mol Genet 1995;4:1105-1108.
5. Yulug IG, Katsanis N, de Belleroche J, Collinge J, Fisher EMC. An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4. Hum Mol Genet 1995;4:1101-1104.
6. Oto M, Miyake S, Yuasa Y. Optimization of nonradioisotopic single strand conformation polymorphism analysis with a conventional minislab gel electrophoresis apparatus. Anal Biochem 1993;213:19-22.
7. Wiedau-Pazos M, Goto JJ, Rabizadeh S, et al. Altered reactivity of Superoxide dismutase in familial amyotrophic lateral sclerosis. Science 1996;271:515-518.
8. Hirayama K. Non-progressive juvenile spinal muscular atrophy of the distal upper limb (Hirayama's disease). In: Vinken PJ, Bruyn GW, Klawans HL, De Jong JMBV, eds. Handbook of clinical neurology, Vol. 59, revised series 15. Amsterdam: Elsevier Science, 1991:107-120.
9. Robberecht W, Nees H, Van Hees J, Theys P, Rosen DR, Brown RH Jr. Familial juvenile focal amyotrophy (Hirayama's disease): case reports and Superoxide 1 genotype and activity [abstract]. Muscle Nerve 1994;17(suppl. 1):S160.