Article
First appraisal of brain pathology owing to A30P mutant alpha-synuclein.
Annals of neurology - 1 May 2010
Seidel Kay, Schöls Ludger, Nuber Silke, Petrasch-Parwez Elisabeth, Gierga Kristin, Wszolek Zbigniew, Dickson Dennis, Gai Wei P, Bornemann Antje, Riess Olaf, Rami Abdelhaq, Den Dunnen Wilfried F A, Deller Thomas, Rüb Udo, Krüger Rejko
Abstract excerpt
Familial Parkinson disease (PD) due to the A30P mutation in the SNCA gene encoding alpha-synuclein is clinically associated with PD symptoms. In this first pathoanatomical study of the brain of an A30P mutation carrier, we observed neuronal loss in the substantia nigra, locus coeruleus, and dorsa...
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