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

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

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Abstract

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
Volume36
Issue number10
Early online date13 Jul 2015
DOIs
Publication statusPublished - Oct 2015

Keywords

  • ALS
  • Amyotrophic lateral sclerosis
  • CHCHD10
  • Genetics

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