| Literature DB >> 16807408 |
N Parkinson1, P G Ince, M O Smith, R Highley, G Skibinski, P M Andersen, K E Morrison, H S Pall, O Hardiman, J Collinge, P J Shaw, E M C Fisher.
Abstract
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.Entities:
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Year: 2006 PMID： 16807408 DOI： 10.1212/01.wnl.0000231510.89311.8b
Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910