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

The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients
The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients
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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Wong, Chun Hao
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Topp, Simon
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Gkazi, Athina Soragia
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Troakes, Claire
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Miller, Jack W.
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de Majo, Martina
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Kirby, Janine
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Shaw, Pamela J.
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Morrison, Karen E.
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de Belleroche, Jacqueline
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Vance, Caroline A.
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Al-Chalabi, Ammar
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Al-Sarraj, Safa
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Shaw, Christopher E.
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Smith, Bradley N.
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Wong, Chun Hao
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Topp, Simon
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Gkazi, Athina Soragia
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Troakes, Claire
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Miller, Jack W.
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de Majo, Martina
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Kirby, Janine
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Shaw, Pamela J.
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Morrison, Karen E.
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de Belleroche, Jacqueline
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Vance, Caroline A.
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Al-Chalabi, Ammar
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Al-Sarraj, Safa
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Shaw, Christopher E.
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Smith, Bradley N.
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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)

Record type: 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.

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More information

Accepted/In Press date: 5 July 2015
e-pub ahead of print date: 13 July 2015
Published date: October 2015
Organisations: Medical Education

Identifiers

Local EPrints ID: 398148
URI: http://eprints.soton.ac.uk/id/eprint/398148
PURE UUID: 0b8c8952-f285-4cfc-b5fd-14f0e632a677
ORCID for Karen E. Morrison: ORCID iD orcid.org/0000-0003-0216-5717

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Date deposited: 19 Jul 2016 14:11
Last modified: 03 Dec 2019 01:32

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Contributors

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

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