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

N. Parkinson, 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.C. Fisher

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304 Citations (Scopus)


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.
Original languageEnglish
Pages (from-to)1074-1077
Number of pages4
Issue number6
Publication statusPublished - 01 Sep 2006

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