کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
4346833 | 1296806 | 2010 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
A novel presenilin 1 mutation (Ser169del) in a Chinese family with early-onset Alzheimer's disease
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب (عمومی)
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چکیده انگلیسی
Early-onset familial Alzheimer's disease (EOFAD) has been associated with mutations in three genes, of which presenilin 1 (PSEN1) mutations are the most frequent. Here we report a novel PSEN1 mutation in a Chinese family with autosomal dominant Alzheimer's disease with an onset age in the early 40s. Molecular genetic analysis showed a 507-509delATC mutation at codon 169, leading to the deletion of serine in residue 169 (Ser169del). The amnestic presentation and absence of other features contrast with the other two mutations at codon 169 which have been associated with myoclonic jerks and seizures.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuroscience Letters - Volume 468, Issue 1, 1 January 2010, Pages 34–37
Journal: Neuroscience Letters - Volume 468, Issue 1, 1 January 2010, Pages 34–37
نویسندگان
Jifeng Guo, Jiaohua Wei, Shusheng Liao, Lei Wang, Hong Jiang, Beisha Tang,