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

Wong, Chun Hao, Topp, Simon, Gkazi, Athina Soragia, Troakes, Claire, Miller, Jack W., de Majo, Martina, Kirby, Janine, Shaw, Pamela J., Morrison, Karen E., de Belleroche, Jacqueline, Vance, Caroline A., Al-Chalabi, Ammar, Al-Sarraj, Safa, Shaw, Christopher E. and Smith, Bradley N. (2015) The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients. Neurobiology of Aging, 36 (10), 2908.e17-2908.e18. (doi:10.1016/j.neurobiolaging.2015.07.014). (PMID:26344877)

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.

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Contributors

Author: Karen E. Morrison

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