Published January 1, 2016
| Version v1
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Motor neurone disease/amyotrophic lateral sclerosis associated with intermediate-length CAG repeat expansions in Ataxin-2 does not have 1C2-positive polyglutamine inclusions
Creators
- 1. Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, 385A Glossop Rd, Sheffield S10 2HQ, S Yorkshire, England
Description
BackgroundIntermediate-length cytosine-adenine-guanine repeat expansions in the ATXN2 gene (which encodes for Ataxin-2 protein) have been linked to increased risk for motor neurone disease/amyotrophic lateral sclerosis (ALS). We screened DNA from cases for which we had post-mortem brain tissue to enable characterization of the neuropathology associated with this mutation.
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