First Appraisal of Brain Pathology Owing to A30P Mutant Alpha-Synuclein

Kay Seidel, Ludger Schöls, Silke Nuber, Elisabeth Petrasch-Parwez, Kristin Gierga, Zbigniew Wszolek, Dennis Dickson, Weiping Gai, Antje Bornemann, Olaf Riess, Abdelhaq Rami, Wilfried den Dunnen, Thomas Deller, Udo Rüb, Rejko Krüger

    Research output: Contribution to journalArticlepeer-review

    93 Citations (Scopus)


    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 dorsal motor vagal nucleus, as well as widespread occurrence of alpha-synuclein immunopositive Lewy bodies, Lewy neurites, and glial aggregates. Alpha-synuclein aggregates ultrastructurally resembled Lewy bodies, and biochemical analyses disclosed a significant load of insoluble alpha-synuclein, indicating neuropathological similarities between A30P disease patients and idiopathic PD, with a more severe neuropathology in A30P carriers.

    Original languageEnglish
    Pages (from-to)684-689
    Number of pages6
    JournalAnnals of Neurology
    Issue number5
    Publication statusPublished - May 2010


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