Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients

Mutation analysis ofCHCHD10in different neurodegenerative diseases

“…These findings agree with the previous observation that CHCHD10 mutations are associated with slow progression and long disease duration (6-17 years) (Muller et al, 2014). In the current study, carriers developed ALS in their 40s or 50s (43, 54 and 58 years of age), similar to the reported range of 50-60 years in other CHCHD10 mutation carriers Chaussenot et al, 2014). The site of ALS onset varied among patients carrying the same p.P80L mutation, with upper limb-onset and predominant bulbar-onset observed in the current study, and flail arm-onset and bulbar onset observed in a recent study (Ronchi et al, 2015).…”

“…The site of ALS onset varied among patients carrying the same p.P80L mutation, with upper limb-onset and predominant bulbar-onset observed in the current study, and flail arm-onset and bulbar onset observed in a recent study (Ronchi et al, 2015). These findings argue against a previous suggestion that CHCHD10 mutation carriers may have a restricted site of onset Chaussenot et al, 2014;Muller et al, 2014).…”

“…Affected family members were presented with a complex phenotype that included symptoms of amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration (FTLD), cerebellar ataxia, Parkinson's disease and a mitochondrial myopathy associated with multiple mitochondrial DNA deletions. So far, seven missense CHCHD10 mutations have been reported in patients with a broad phenotypic range, including ALS/FTLD (p.S59L and p.P34S) Chaussenot et al, 2014), ALS (p.R15L and p.G66V) (Johnson et al, 2014;Muller et al, 2014), myopathy (p.R15S and p.G58R) (Ajroud-Driss et al, 2015) and lateonset spinal motor neuronopathy (p.G66V) (Penttila et al, 2015). All of them affect exon 2 (a mutational hotspot of CHCHD10).…”

The cellular stress proteins CHCHD10 and MNRR1 (CHCHD2): Partners in mitochondrial and nuclear function and dysfunction

“…CHCHD10, although highly expressed in heart and skeletal muscle (7), was discovered to be mutated in a proportion of individuals suffering from several neurodegenerative diseases (8)(9)(10)(11)(12)(13)(14)(15)(16)(17). The clinical effects of these mutations have been well described (18).…”

Mitochondrial Proteins Containing Coiled-Coil-Helix-Coiled-Coil-Helix (CHCH) Domains in Health and Disease

“…A missense mutation 240 (S59L) in CHCHD10 that is associated with frontotemporal dementia (FTD) and amyotrophic 241 lateral sclerosis (ALS) [98,99] causes respiratory deficiencies accompanied by mitochondrial 242 dysgenesis and fragmentation in patient fibroblasts [98] (Table 2). CHCHD10 and its 243 paralogue CHCHD2, which are encoded by genes localized on chromosomes 22q11.23 and 244 7p11.2, respectively, have emerged as a result of gene duplication during the evolution from 245 yeast to man [49].…”