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Ataxin-2 repeat-length variation and neurodegeneration

Owen A Ross1, Nicola J Rutherford, Matt Baker

  • 1Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.

Human Molecular Genetics
|May 26, 2011
PubMed
Summary

Expanded ataxin-2 (ATXN2) repeats are a significant risk factor for amyotrophic lateral sclerosis (ALS) and may predispose individuals to progressive supranuclear palsy. Caution is advised when linking specific ATXN2 repeat lengths to disease phenotypes.

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