کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
9880214 | 1535220 | 2005 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
CADASIL with NOTCH3 S180C presenting anticipation of onset age and hallucinations
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
سالمندی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited disease leading to strokes and vascular dementia. The average age of onset for stroke is 45 years with a range of about 30 to 70 years. We describe a Japanese CADASIL family showing S180C in the exon 4 of NOTCH3, presenting an anticipation of the onset age for stroke. MRI demonstrated a similar extent of white matter involvement in younger and older individuals, supporting the presence of anticipation. In addition, hallucinations in 71% of affected patients, and delusions in 57% were also described. Our findings in this family suggest that a specific NOTCH3 mutation was related to unique clinical features, although such correlations have seldom been encountered in CADASIL.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Neurological Sciences - Volume 238, Issues 1â2, 15 November 2005, Pages 87-91
Journal: Journal of the Neurological Sciences - Volume 238, Issues 1â2, 15 November 2005, Pages 87-91
نویسندگان
Tomohiko Nakamura, Hirohisa Watanabe, Masaaki Hirayama, Akira Inukai, Hidehiro Kabasawa, Michitaka Matsubara, Shigehisa Mitake, Masaaki Nakamura, Yukio Ando, Makoto Uchino, Gen Sobue,