Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain.

Sir, Recently, a study identified a mutation (c.176C>T, p.S59L) in the CHCHD10 gene as a cause of amyotrophic lateral sclerosis (ALS)/frontotemporal dementia (FTD) in a large pedigree with mixed phenotypes encompassing ALS, FTD, cerebellar ataxia and mitochondrial myopathy (Bannwarth et al. , 2014).The same mutation was also found in a second kindred suffering from ALS, FTD and/or parkinsonian signs by the same authors. Additional mutations (p.R15L, p.P34S, p.G66V and p.P80L) have been subsequently reported in ALS and FTD with motor neuron disease (FTD-MND) patients (Chaussenot et al. , 2014; Johnson et al. , 2014; Muller et al. , 2014; Kurzwelly et al. , 2015; Ronchi et al. 2015; Chio et al. , 2015). More recently, exon 2 of the CHCHD10 gene has been sequenced in a cohort of ALS, FTD, Parkinson's disease and Alzheimer’s dementia, revealing two novel mutations (p.P23T and p.A35D) in two patients with FTD (Zhang et al. , 2015). Importantly, some of these screenings have not included neurologically healthy individuals from the same geographic origin (Bannwarth et al. , 2014; Johnson et al. , 2014; Muller et al. , 2014; Kurzwelly et al. , 2015) and therefore, the real allele diversity within CHCHD10 might have been missed. This could have important consequences in terms of establishing firm …