Article
Novel FUS mutations identified through molecular screening in a large cohort of familial and sporadic amyotrophic lateral sclerosis.
European journal of neurology - 1 Nov 2015
Tarlarini C, Lunetta C, Mosca L, Avemaria F, Riva N, Mantero V, Maestri E, Quattrini A, Corbo M, Melazzini M G, Penco S
Abstract excerpt
BACKGROUND AND PURPOSE: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease. Approximately 5%-10% of cases are familial (FALS) and the remaining are sporadic (SALS). To date FUS mutations are responsible for 4%-6% of familial cases as well as 0.7%-1.8% of sporadic cases. METHODS: The frequency of FUS mutations was investigated in an Italian cohort of 500 SALS and 40 FALS patients through...
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