Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.

Abstract

Sir, The work from Giacomo Comi’s group in Milan confirms that CHCHD10 is associated with motor neuron disease (Ronchi et al. , 2015). Firstly, this group identified two individuals who carried a CHCHD10 mutation among a cohort of 218 Italian patients with sporadic amyotrophic lateral sclerosis (ALS) (1.4%). A female, who developed bulbar ALS at 75 years of age, carried the p.Pro34Ser mutation that we previouly identified in two unrelated frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) patients (Chaussenot et al. , 2014). A novel missense mutation (p.Pro80Leu) was also found in two unrelated males who developed the disease at 25 and 59 years of age, respectively. After the identification of CHCHD10 mutations in FTD-ALS and familial pure ALS cohorts, this novel study supports the involvement of this gene in sporadic ALS (Chaussenot et al. , 2014; Johnson et al. , 2014; Muller et al. , 2014; Ronchi …