| Literature DB >> 25726362 |
Adriano Chiò1, Gabriele Mora2, Mario Sabatelli3, Claudia Caponnetto4, Bryan J Traynor5, Janel O Johnson5, Mike A Nalls6, Andrea Calvo7, Cristina Moglia8, Giuseppe Borghero9, Maria Rosaria Monsurrò10, Vincenzo La Bella11, Paolo Volanti12, Isabella Simone13, Fabrizio Salvi14, Francesco O Logullo15, Riva Nilo16, Stefania Battistini17, Jessica Mandrioli18, Raffaella Tanel19, Maria Rita Murru20, Paola Mandich4, Marcella Zollino21, Francesca L Conforti22, Maura Brunetti23, Marco Barberis23, Gabriella Restagno24, Silvana Penco25, Christian Lunetta26.
Abstract
Mutations in CHCHD10 have recently been described as a cause of frontotemporal dementia (FTD) comorbid with amyotrophic lateral sclerosis (ALS). The aim of this study was to assess the frequency and clinical characteristics of CHCHD10 mutations in Italian patients diagnosed with familial (n = 64) and apparently sporadic ALS (n = 224). Three apparently sporadic patients were found to carry c.100C>T (p.Pro34Ser) heterozygous variant in the exon 2 of CHCHD10. This mutation had been previously described in 2 unrelated French patients with FTD-ALS. However, our patients had a typical ALS, without evidence of FTD, cerebellar or extrapyramidal signs, or sensorineural deficits. We confirm that CHCHD10 mutations account for ∼ 1% of Italian ALS patients and are a cause of disease in subjects without dementia or other atypical clinical signs.Entities:
Keywords: Amyotrophic lateral sclerosis; CHCHD10; Familial; Sporadic
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Year: 2015 PMID： 25726362 PMCID： PMC4380794 DOI： 10.1016/j.neurobiolaging.2015.01.017
Source DB: PubMed Journal: Neurobiol Aging ISSN： 0197-4580 Impact factor: 4.673