Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease

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• 作者：Sara Rollinson^a ; Nicola Halliwell^a ; Kate Young^a ; Janis Bennion Callister^a ; Greg Toulson^a ; Linda Gibbons^b ; Yvonne S. Davidson^b ; Andrew C. Robinson^b ; Alex Gerhard^b ; Anna Richardson^b ; David Neary^b ; Julie Snowden^b ; David M.A. Mann^b ; Stuart M. Pickering-Brown^a ; ^{SPB@Manchester.ac.uk}
• 关键词：C9ORF72 ; Alzheimer's disease ; Frontotemporal lobar degeneration
• 刊名：Neurobiology of Aging
• 出版年：2012
• 期刊代码：202_01974580
• 类别：med
• 出版时间：August, 2012
• 卷：33
• 期：8
• 页码：1846.e5-1846.e6
• 文件大小：326 K

摘要

Frontotemporal lobar degeneration (FTLD) is a highly familial neurodegenerative disease. It has recently been shown that the most common genetic cause of FTLD and amyotrophic lateral sclerosis (ALS) is a hexanucleotide repeat expansion in C9ORF72. To investigate whether this expansion was specific to the FTLD/ALS disease spectrum, we genotyped the hexanucleotide repeat region of C9ORF72 in a large cohort of patients with Alzheimer's disease (AD). A normal range of repeats was found in all cases. We conclude that the hexanucleotide repeat expansion is specific to the FTLD/ALS disease spectrum.