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

N Parkinson, PG Ince, MO Smith, R Highley, G Skibinski, PM Andersen, Karen Morrison, Hardev Pall, O Hardiman, J Collinge, PJ Shaw, EM Fisher

    Research output: Contribution to journalArticle

    294 Citations (Scopus)

    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.
    Original languageEnglish
    Pages (from-to)1074-1077
    Number of pages4
    JournalNeurology
    Volume67
    Issue number6
    DOIs
    Publication statusPublished - 26 Sep 2006

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