期刊
NEUROBIOLOGY OF AGING
卷 36, 期 4, 页码 -出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2015.01.017
关键词
Amyotrophic lateral sclerosis; Familial; Sporadic; CHCHD10
资金
- Packard Centre for ALS Research at Johns Hopkins
- Fondazione Vialli e Mauro Onlus
- Compagnia di San Paolo
- European Community's Health Seventh Framework Programme [259867]
- Joint Programme-Neurodegenerative Disease Research
- Italian Health Ministry
- Italian Ministry of University and Research
- Fondazione Mario e Anna Magnetto
- Associazione Piemontese per l'Assistenza alla Sclerosi Laterale Amiotrofica (APASLA)
- Intramural Research Programs of the National Institute on Aging [Z01-AG000949-02]
- US National Institutes of Health (NIH)
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 similar to 1% of Italian ALS patients and are a cause of disease in subjects without dementia or other atypical clinical signs. (C) 2015 Elsevier Inc. All rights reserved.
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