Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion

被引：13

作者：

Englund, Elisabet ^{[3
]}

Gustafson, Lars ^{[4
]}

Passant, Ulla ^{[4
]}

Majounie, Elisa ^{[5
]}

Renton, Alan E. ^{[5
]}

Traynor, Bryan J. ^{[5
]}

Rohrer, Jonathan D. ^{[6
]}

Mok, Kin ^{[1
,2
]}

Hardy, John ^{[1
,2
]}

机构：

[1] Inst Neurol, Reta Lilla Weston Labs, London WC1N 3BG, England

[2] Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

[3] Lund Univ, Dept Pathol, Reg Labs Reg Skane, Lund, Sweden

[4] Lund Univ, Dept Geriatr Psychiat, Lund, Sweden

[5] NIA, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

[6] UCL, UCL Inst Neurol, Dementia Res Ctr, Dept Neurodegenerat Dis, London, England

来源：

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

关键词：

Frontotemporal dementia; Genetics; AMYOTROPHIC-LATERAL-SCLEROSIS; LOBAR DEGENERATION; CRITERIA; REPEAT; FTD; ALS;

D O I：

10.1016/j.neurobiolaging.2012.02.019

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 dementia (FTD) as an important clinical entity was rediscovered in Lund and Manchester in the early 1990s. Here we show that the large Lund pedigree with behavioral variant of frontotemporal dementia previously described with this disorder has an expansion in the recently described C9ORF72 locus on chromosome 9. (C) 2012 Elsevier Inc. All rights reserved.

引用

页码：1850.e13 / 1850.e16

页数：4

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