کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2702000 | 1144502 | 2013 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
The First Indian-Origin Family with Genetically Proven Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
مغز و اعصاب بالینی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: The First Indian-Origin Family with Genetically Proven Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) The First Indian-Origin Family with Genetically Proven Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)](/preview/png/2702000.png)
چکیده انگلیسی
We report the first family of Indian origin known to be affected by cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Seventeen members of the family spanning 3 generations had neurologic syndromes compatible with CADASIL, of whom 5 were genetically confirmed carriers of the Notch3 gene R141C mutation in exon 4 (421C→T and 141Cys→Arg). Our report highlights that CADASIL not only occurs sporadically in South Asians, but also may account for stroke in South Asians with a strong family history. Furthermore, the similarity of clinical presentations described here to those typical for Caucasian case series suggests that the CADASIL phenotype is preserved across racial groups.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Stroke and Cerebrovascular Diseases - Volume 22, Issue 1, January 2013, Pages 28–31
Journal: Journal of Stroke and Cerebrovascular Diseases - Volume 22, Issue 1, January 2013, Pages 28–31
نویسندگان
Sunaina Yadav, Paul Bentley, Padma Srivastava, Kameshwar Prasad, Pankaj Sharma,