ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
- 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.C.
Publication date
September 2006
DOI Publisher
Ovid Technologies (Wolters Kluwer Health)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
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