伴有CHMP2B（多囊泡体蛋白2B）突变的肌萎缩侧索硬化症表型
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B).
作者信息
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
机构信息
MRC Prion Unit, Institute of Neurology, University College London, London, UK.
出版信息
Neurology. 2006 Sep 26;67(6):1074-7. doi: 10.1212/01.wnl.0000231510.89311.8b. Epub 2006 Jun 28.
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.
CHMP2B基因的突变与额颞叶痴呆有关。作者对肌萎缩侧索硬化症（ALS）患者和几组对照样本进行了CHMP2B筛查。他们在两名非SOD1型ALS患者中发现了突变（Q206H；I29V）。Q206H病例的神经病理学显示以运动神经元为主的下运动神经元疾病，运动神经元中有泛素化包涵体。针对p62（聚集体蛋白1）的抗体在运动皮层中显示出新的少突胶质细胞包涵体。
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