CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients.

doi:10.1016/j.neurobiolaging.2015.01.017

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Article

CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients.

Neurobiology of aging - 1 Apr 2015

Chiò Adriano, Mora Gabriele, Sabatelli Mario, Caponnetto Claudia, Traynor Bryan J, Johnson Janel O, Nalls Mike A, Calvo Andrea, Moglia Cristina, Borghero Giuseppe, Monsurrò Maria Rosaria, La Bella Vincenzo, Volanti Paolo, Simone Isabella, Salvi Fabrizio, Logullo Francesco O, Nilo Riva, Battistini Stefania, Mandrioli Jessica, Tanel Raffaella, Murru Maria Rita, Mandich Paola, Zollino Marcella, Conforti Francesca L, Brunetti Maura, Barberis Marco, Restagno Gabriella, Penco Silvana, Lunetta Christian

Abstract excerpt

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)...

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Identifiers

PMID: 25726362
DOI: 10.1016/j.neurobiolaging.2015.01.017
PMCID: PMC4380794

Genes

CHCHD10

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Source receipt: pubmed, retrieved 6 Sept 2026.

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