Article
Clinical heterogeneity in Italian patients with amyotrophic lateral sclerosis.
Clinical genetics - 1 Jul 2012
Piaceri I, Del Mastio M, Tedde A, Bagnoli S, Latorraca S, Massaro F, Paganini M, Corrado A, Sorbi S, Nacmias B
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a rare and devastating neurodegenerative disorder. The majority of cases are sporadic ALS (SALS), with 5-10% being familial ALS (FALS), and are inherited mostly as autosomal dominant. Mutations in Cu/Zn superoxide dismutase (SOD1) and the TAR DNA-binding protein (TARDBP) gene are the most commonly known cause of ALS. We analyzed these genes in 61 Italian ALS patients using...
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