Pathophysiological insights into ALS with C9ORF72 expansions

Abstract excerpt

OBJECTIVE: Expansions of a hexanucleotide repeat in C9ORF72 are a common cause of familial amyotrophic lateral sclerosis (ALS) and a small proportion of sporadic ALS cases. We sought to examine clinical and neurophysiological features of familial and sporadic ALS with C9ORF72 expansions. METHODS: C9ORF72 was screened for expansions in familial and sporadic ALS. Clinical features of expansion positive cases are...

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