Format

Send to

Choose Destination
See comment in PubMed Commons below
Neurology. 2006 Sep 26;67(6):1074-7. Epub 2006 Jun 28.

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

Author information

1
MRC Prion Unit, Institute of Neurology, University College London, London, UK.

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.

[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire
    Loading ...
    Support Center