کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
6804455 1433557 2015 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی سالمندی
پیش نمایش صفحه اول مقاله
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients
چکیده انگلیسی
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.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neurobiology of Aging - Volume 36, Issue 4, April 2015, Pages 1767.e3-1767.e6
نویسندگان
, , , , , , , , , , , , , ,