4.5 Article

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

Journal

NEUROBIOLOGY OF AGING
Volume 36, Issue 10, Pages -

Publisher

ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2015.07.014

Keywords

ALS; Amyotrophic lateral sclerosis; CHCHD10; Genetics

Funding

  1. Middlemass family
  2. Heaton-Ellis Trust
  3. Motor Neurone Disease Association
  4. Medical Research Council
  5. Psychiatry Research Trust of the Institute of Psychiatry
  6. Guy's and St Thomas' Charity
  7. Wellcome Trust
  8. Noreen Murray Foundation
  9. JPND-United Kingdom
  10. JPND-Medical Research Council
  11. JPND-Economic and Social Research Council
  12. European Community's Health Seventh Framework Programme (FP7) [259867]
  13. MND Association
  14. MRC [G0900635, G1100695, MR/L021803/1, G0500289, G9318379, MC_G1000733, G0900688, MR/L016397/1] Funding Source: UKRI
  15. Medical Research Council [G0900688, MC_G1000733, G1100695, MR/L021803/1, MR/L501529/1, MR/L016397/1, G9318379, G0500289, G0900635] Funding Source: researchfish
  16. Medical Research Foundation [MRF-060-0003-RG-SMITH] Funding Source: researchfish

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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. (C) 2015 Elsevier Inc. All rights reserved.

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