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

Research output: Contribution to journalArticlepeer-review

18 Citations (Scopus)

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
DOIs
Publication statusPublished - 01 Oct 2015

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