کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6807644 | 1433583 | 2013 | 8 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
سالمندی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians](/preview/png/6807644.png)
چکیده انگلیسی
Recently, a hexanucleotide repeat expansion in the C9ORF72 gene has been identified to account for a significant portion of Caucasian families affected by frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Given the clinical overlap of FTD with Alzheimer's disease (AD), we hypothesized that C9ORF72 expansions might contribute to AD. In Caucasians, we found C9ORF72 expansions in the pathogenic range of FTD/ALS (>30 repeats) at a proportion of 0.76% in AD cases versus 0 in control subjects (p = 3.3E-03; 1182 cases, 1039 controls). In contrast, no large expansions were detected in individuals of African American ethnicity (291 cases, 620 controls). However, in the range of normal variation of C9ORF72 expansions (0-23 repeat copies), we detected significant differences in distribution and mean repeat counts between Caucasians and African Americans. Clinical and pathological re-evaluation of identified C9ORF72 expansion carriers revealed 9 clinical and/or autopsy confirmed AD and 2 FTD final diagnoses. Thus, our results support the notion that large C9ORF72 expansions lead to a phenotypic spectrum of neurodegenerative disease including AD.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neurobiology of Aging - Volume 34, Issue 5, May 2013, Pages 1519.e5-1519.e12
Journal: Neurobiology of Aging - Volume 34, Issue 5, May 2013, Pages 1519.e5-1519.e12
نویسندگان
Martin A. Kohli, Krista John-Williams, Ruchita Rajbhandary, Adam Naj, Patrice Whitehead, Kara Hamilton, Regina M. Carney, Clinton Wright, Elizabeth Crocco, Harry E. Gwirtzman, Rosalyn Lang, Gary Beecham, Eden R. Martin, John Gilbert, Michael Benatar,