Journal
NEUROLOGY
Volume 67, Issue 6, Pages 1074-1077Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/01.wnl.0000231510.89311.8b
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Funding
- Medical Research Council [MC_U123160657, MC_U123192748] Funding Source: Medline
- Wellcome Trust Funding Source: Medline
- MRC [MC_U123160657] Funding Source: UKRI
- Medical Research Council [MC_U123160657] Funding Source: researchfish
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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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