D11Y SOD1 mutation and benign ALS: A consistent genotype-phenotype correlation

Abstract We describe three sporadic ALS patients in which a D11Y SOD1 mutation was detected. All three patients disclosed a prolonged survival and a stereotypical distal limbs involvement in the initial stages of the disease. By this report we demonstrate that D11Y SOD1 mutation is associated with a...

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Veröffentlicht in:	Journal of the neurological sciences 2011-10, Vol.309 (1), p.31-33
Hauptverfasser:	Del Grande, A, Conte, A, Lattante, S, Luigetti, M, Marangi, G, Zollino, M, Madia, F, Bisogni, G, Sabatelli, M
Format:	Artikel
Sprache:	eng
Schlagworte:	Aged Amino Acid Substitution - genetics Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis - diagnosis Amyotrophic Lateral Sclerosis - genetics Aspartic Acid - genetics Biological and medical sciences Cu/Zn SOD1 Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Female Genetic Association Studies - methods Genotype–phenotype correlation Humans Medical sciences Middle Aged Mutation - genetics Neurology Superoxide Dismutase - genetics Superoxide Dismutase-1 Tyrosine - genetics
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Zusammenfassung:	Abstract We describe three sporadic ALS patients in which a D11Y SOD1 mutation was detected. All three patients disclosed a prolonged survival and a stereotypical distal limbs involvement in the initial stages of the disease. By this report we demonstrate that D11Y SOD1 mutation is associated with a peculiar phenotype and we confirm its probable pathogenetic role.
ISSN:	0022-510X 1878-5883
DOI:	10.1016/j.jns.2011.07.041