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. 2015 Oct;36(10):2908.e17-8.
doi: 10.1016/j.neurobiolaging.2015.07.014. Epub 2015 Jul 13.

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

Chun Hao Wong  1 , Simon Topp  1 , Athina Soragia Gkazi  1 , Claire Troakes  1 , Jack W Miller  1 , Martina de Majo  1 , Janine Kirby  2 , Pamela J Shaw  2 , Karen E Morrison  3 , Jacqueline de Belleroche  4 , Caroline A Vance  1 , Ammar Al-Chalabi  1 , Safa Al-Sarraj  1 , Christopher E Shaw  1 , Bradley N Smith  5
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Free article

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

Chun Hao Wong et al. Neurobiol Aging. 2015 Oct.
Free article

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.

Keywords: ALS; Amyotrophic lateral sclerosis; CHCHD10; Genetics.

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