ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)

被引：307

作者：

Parkinson, N.

Ince, P. G.

Smith, M. O.

Highley, R.

Skibinski, G.

Andersen, P. M.

Morrison, K. E.

Pall, H. S.

Hardiman, O.

Collinge, J.

Shaw, P. J.

Fisher, E. M. C.

机构：

[1] UCL, MRC, Pr Unit, London, England

[2] UCL, Dept Neurodegenerat Dis, London, England

[3] UCL, Inst Neurol, London, England

[4] Univ Sheffield, Acad Unit Pathol, Sheffield, S Yorkshire, England

[5] Univ Umea Hosp, Dept Neurol & Clin Neurosci, Umea, Sweden

[6] Univ Birmingham, Div Neurosci, Birmingham, W Midlands, England

[7] Beaumont Hosp, Dept Neurol, Dublin 9, Ireland

来源：

NEUROLOGY | 2006年 / 67卷 / 06期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

D O I：

10.1212/01.wnl.0000231510.89311.8b

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mutation in the CHMP2B gene has been implicated in frontotemporal dementia. The authors screened CHMP2B in patients with ALS and several cohorts of control samples. They identified mutations ( Q206H; I29V) in two patients with non-SOD1 ALS. Neuropathology of the Q206H case showed lower motor neuron predominant disease with ubiquitylated inclusions in motor neurons. Antibodies to p62 (sequestosome 1) showed novel oligodendroglial inclusions in the motor cortex.

引用

收藏

页码：1074 / 1077

页数：4

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