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

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

  • Neurology. 2006 Sep 26;67(6):1074-7. doi: 10.1212/01.wnl.0000231510.89311.8b.
N Parkinson 1,  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,  MRC Proteomics in ALS Study,  FReJA Consortium
Affiliations

Affiliation

  • 1 MRC Prion Unit, Institute of Neurology, University College London, London, UK.
PMID: 16807408 DOI: 10.1212/01.wnl.0000231510.89311.8b
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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