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

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

Authors :
Chiò A
Mora G
Sabatelli M
Caponnetto C
Traynor BJ
Johnson JO
Nalls MA
Calvo A
Moglia C
Borghero G
Monsurrò MR
La Bella V
Volanti P
Simone I
Salvi F
Logullo FO
Nilo R
Battistini S
Mandrioli J
Tanel R
Murru MR
Mandich P
Zollino M
Conforti FL
Brunetti M
Barberis M
Restagno G
Penco S
Lunetta C
Source :
Neurobiology of aging [Neurobiol Aging] 2015 Apr; Vol. 36 (4), pp. 1767.e3-1767.e6. Date of Electronic Publication: 2015 Jan 28.
Publication Year :
2015

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.<br /> (Copyright © 2015 Elsevier Inc. All rights reserved.)

Details

Language :
English
ISSN :
1558-1497
Volume :
36
Issue :
4
Database :
MEDLINE
Journal :
Neurobiology of aging
Publication Type :
Academic Journal
Accession number :
25726362
Full Text :
https://doi.org/10.1016/j.neurobiolaging.2015.01.017