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

doi:10.1016/j.neurobiolaging.2015.07.014

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^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

20 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 language	English
Pages (from-to)	2908.e17-2908.e18
Number of pages	2
Journal	Neurobiology of Aging
Volume	36
Issue number	10
Early online date	13 Jul 2015
DOIs	https://doi.org/10.1016/j.neurobiolaging.2015.07.014
Publication status	Published - 1 Oct 2015

Keywords

ALS
Amyotrophic lateral sclerosis
CHCHD10
Genetics

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10.1016/j.neurobiolaging.2015.07.014

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Wong, C. H., Topp, S., Gkazi, A. S., Troakes, C., Miller, J. W., de Majo, M., Kirby, J., Shaw, P. J., Morrison, K. E., de Belleroche, J., Vance, C. A., Al-Chalabi, A., Al-Sarraj, S., Shaw, C. E., & Smith, B. 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. https://doi.org/10.1016/j.neurobiolaging.2015.07.014

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

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",

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

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Wong, CH , Topp, S , Gkazi, AS , Troakes, C , Miller, JW , de Majo, M, Kirby, J, Shaw, PJ, Morrison, KE, de Belleroche, J, Vance, CA , Al-Chalabi, A , Al-Sarraj, S , Shaw, CE & Smith, BN 2015, 'The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients', Neurobiology of Aging, vol. 36, no. 10, pp. 2908.e17-2908.e18. https://doi.org/10.1016/j.neurobiolaging.2015.07.014

TY - JOUR

T1 - The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients

AU - Wong, Chun Hao

AU - Topp, Simon

AU - Gkazi, Athina Soragia

AU - Troakes, Claire

AU - Miller, Jack W.

AU - de Majo, Martina

AU - Kirby, Janine

AU - Shaw, Pamela J.

AU - Morrison, Karen E.

AU - de Belleroche, Jacqueline

AU - Vance, Caroline A.

AU - Al-Chalabi, Ammar

AU - Al-Sarraj, Safa

AU - Shaw, Christopher E.

AU - Smith, Bradley N.

PY - 2015/10/1

Y1 - 2015/10/1

N2 - 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.

AB - 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.

KW - ALS

KW - Amyotrophic lateral sclerosis

KW - CHCHD10

KW - Genetics

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SN - 0197-4580

VL - 36

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JO - Neurobiology of Aging

JF - Neurobiology of Aging

IS - 10

ER -

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

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