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

被引：12

作者：

Rollinson, Sara ^{[1
]}

Halliwell, Nicola ^{[1
]}

Young, Kate ^{[1
]}

Callister, Janis Bennion ^{[1
]}

Toulson, Greg ^{[1
]}

Gibbons, Linda ^{[2
]}

Davidson, Yvonne S. ^{[2
]}

Robinson, Andrew C. ^{[2
]}

Gerhard, Alex ^{[2
]}

Richardson, Anna ^{[2
]}

Neary, David ^{[2
]}

Snowden, Julie ^{[2
]}

Mann, David M. A. ^{[2
]}

Pickering-Brown, Stuart M. ^{[1
]}

机构：

[1] Univ Manchester, Mental Hlth & Neurodegenerat Res Grp, Fac Human & Med Sci, Manchester M13 9PT, Lancs, England

[2] Hope Hosp, Greater Manchester Neurosci Ctr, Salford M6 8HD, Lancs, England

来源：

NEUROBIOLOGY OF AGING | 2012年 / 33卷 / 08期

基金：

英国医学研究理事会;

关键词：

C9ORF72; Alzheimer's disease; Frontotemporal lobar degeneration; CLINICAL-DIAGNOSIS; FTD; ALS;

D O I：

10.1016/j.neurobiolaging.2012.01.109

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

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. (C) 2012 Elsevier Inc. All rights reserved.

引用

页码：1846.e5 / 1846.e6

页数：2

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