The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients

Research output: Contribution to journalArticlepeer-review


  • Chun Hao Wong
  • Simon Topp
  • Athina Soragia Gkazi
  • Claire Troakes
  • Jack W Miller
  • Martina de Majo
  • Janine Kirby
  • Pamela J Shaw
  • Jacqueline de Belleroche
  • Caroline A Vance
  • Ammar Al-Chalabi
  • Safa Al-Sarraj
  • Bradley N Smith


Mutations in CHCHD10 have recently been reported as a cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. To address the genetic contribution of CHCHD10 to ALS, we have screened a cohort of 425 UK ALS ± frontotemporal dementia patients and 576 local controls in all coding exons of CHCHD10 by Sanger sequencing. We identified a previously reported p.P34S variant that is also present in neurologically healthy controls (p = 0.58). Our results suggest that CHCHD10 is not a primary cause of ALS in UK cases.


Original languageEnglish
Pages (from-to)2908.e17-2908.e18
JournalNeurobiology of Aging
Issue number10
Early online date13 Jul 2015
Publication statusPublished - Oct 2015


  • ALS, Amyotrophic lateral sclerosis, CHCHD10, Genetics