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

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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
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 - Oct 2015

Keywords

ALS
Amyotrophic lateral sclerosis
CHCHD10
Genetics

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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. Advance online publication. https://doi.org/10.1016/j.neurobiolaging.2015.07.014

@article{7431518ad9914ed98e752bb57dffa841,

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}",

year = "2015",

month = oct,

doi = "10.1016/j.neurobiolaging.2015.07.014",

language = "English",

volume = "36",

pages = "2908.e17--2908.e18",

journal = "Neurobiology of Aging",

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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

Y1 - 2015/10

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

U2 - 10.1016/j.neurobiolaging.2015.07.014

DO - 10.1016/j.neurobiolaging.2015.07.014

M3 - Article

C2 - 26344877

SN - 0197-4580

VL - 36

SP - 2908.e17-2908.e18

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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