The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients
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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.
|Journal||Neurobiology of Aging|
|Early online date||13 Jul 2015|
|Publication status||Published - Oct 2015|
- ALS, Amyotrophic lateral sclerosis, CHCHD10, Genetics