Amyotrophic lateral sclerosis (ALS) is a progressive neurological disorder. The mutations of Cu/Zn superoxide dismutase gene (SOD1) are responsible for familial ALS. We investigated a large family of Istro-Rumanian origin characterized by an autosomal dominant ALS occurring in 18 cases (three of which are still alive) throughout six generations.

ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene

Amoroso, A
2001

Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive neurological disorder. The mutations of Cu/Zn superoxide dismutase gene (SOD1) are responsible for familial ALS. We investigated a large family of Istro-Rumanian origin characterized by an autosomal dominant ALS occurring in 18 cases (three of which are still alive) throughout six generations.
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Age of Onset; Aged; Amyotrophic Lateral Sclerosis; Comorbidity; Croatia; DNA Mutational Analysis; Disease Progression; Enzyme Activation; Family; Female; Genes, Dominant; Genetic Testing; Humans; Hyperthyroidism; Italy; Male; Middle Aged; Neuropsychological Tests; Pedigree; Phenotype; Romania; Superoxide Dismutase; Superoxide Dismutase-1; Amino Acid Substitution; Mutation
Masè, G; Ros, S; Gemma, A; Bonfigli, L; Carraro, N; Cazzato, G; Rolfo, M; Zanconati, F; Sepcic, J; Jurjevic, A; Pirulli, D; Boniotto, M; Zezlina, S; Crovella, S; Amoroso, A
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2318/1672390
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