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

@article{Chaussenot2014ScreeningOC,
  title={Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients.},
  author={Annabelle Chaussenot and I Le Ber and Samira Ait-El-Mkadem and Agn{\`e}s Camuzat and Anne Langlois de Septenville and Sylvie Bannwarth and Emmanuelle C Genin and Val{\'e}rie Serre and Ga{\"e}lle Aug{\'e} and Alexis Brice and J. Pouget and V{\'e}ronique Paquis-Flucklinger},
  journal={Neurobiology of aging},
  year={2014},
  volume={35 12},
  pages={2884.e1-2884.e4}
}
Mutations in the CHCHD10 gene have been recently identified in a large family with a complex phenotype variably associating frontotemporal dementia (FTD) with amyotrophic lateral sclerosis (ALS), cerebellar ataxia, myopathy, and hearing impairment. CHCHD10 encodes a protein located in the mitochondrial intermembrane space and is likely involved in mitochondrial genome stability and maintenance of cristae junctions. However, the exact contribution of CHCHD10 in FTD and ALS diseases spectrum… CONTINUE READING