Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD

被引：153

作者：

Münch, C

Rosenbohm, A

Sperfeld, AD

Uttner, I

Reske, S

Krause, BJ

Sedlmeier, R

Meyer, T

Hanemann, CO

Stumm, G

Ludolph, AC

机构：

[1] Univ Ulm, Dept Neurol, D-89081 Ulm, Germany

[2] Univ Ulm, Dept Nucl Med, D-89081 Ulm, Germany

[3] Jewish Hosp, Dept Neurol, Berlin, Germany

[4] Ingenium Pharmaceut AG, Martinsried, Germany

[5] Humboldt Univ, Charite Hosp, Dept Neurol, Berlin, Germany

来源：

ANNALS OF NEUROLOGY | 2005年 / 58卷 / 05期

关键词：

D O I：

10.1002/ana.20631

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A heterozygous R1101K mutation of the p150 subunit of dynactin (DCTN1) is reported in a family with amyotrophic lateral sclerosis (ALS) and co-occurrence of frontotemporal dementia (FTD). Two members of our kindred were affected with motor neuron disease and two with dementia in an autosomal dominant pattern of inheritance. We excluded the involvement of the AILS and FTD-linked genes for copper/zinc superoxide dismutase (SOD1) and tau. The R1101K sequence alteration of the DCTN1 gene may predispose subjects to ALS and FTD.

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页码：777 / 780

页数：4

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