TMEFF1 and amyotrophic lateral sclerosis: After screening for expansions in SCA8, SCA10, SCA12, SCA36 and FXTAS, the cohort was additionally evaluated for a pathogenic hexanucleotide repeat in the C9orf2 gene, which has recently been identified as a common pathogenic mutation in families with autosomal dominant frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) [11].