A novel alpha-synuclein missense mutation in Parkinson disease.
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Proukakis C, Dudzik CG, Brier T, MacKay DS, Cooper JM, Millhauser GL, Houlden H, Schapira AH
A novel alpha-synuclein missense mutation in Parkinson disease.
Neurology. 2013 Mar 12;80(11):1062-4. doi: 10.1212/WNL.0b013e31828727ba. Epub 2013 Feb 20.
- PubMed ID
- 23427326 [ View in PubMed]
- Abstract
Alpha-synuclein (SNCA) is central to the pathogenesis of Parkinson disease (PD), with 3 missense mutations reported to date. We report a novel mutation (p.H50Q) in a pathologically proven case.