First appraisal of brain pathology owing to A30P mutant alpha-synuclein

Kay Seidel, Ludger Schöls, Silke Nuber, Elisabeth Petrasch-Parwez, Kristin Gierga, Zbigniew K Wszolek, Dennis W Dickson, Wei P. Gai, Antje Bornemann, Olaf Riess, Abdelhaq Rami, Wilfried F A Den Dunnen, Thomas Deller, Udo Rüb, Rejko Krüger

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Abstract

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 (US)
Pages (from-to)684-689
Number of pages6
JournalAnnals of Neurology
Volume67
Issue number5
DOIs
StatePublished - May 2010

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alpha-Synuclein
Pathology
Parkinson Disease
Lewy Bodies
Brain
Mutation
Locus Coeruleus
Neurites
Substantia Nigra
Neuroglia
Genes

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Seidel, K., Schöls, L., Nuber, S., Petrasch-Parwez, E., Gierga, K., Wszolek, Z. K., ... Krüger, R. (2010). First appraisal of brain pathology owing to A30P mutant alpha-synuclein. Annals of Neurology, 67(5), 684-689. https://doi.org/10.1002/ana.21966

First appraisal of brain pathology owing to A30P mutant alpha-synuclein. / Seidel, Kay; Schöls, Ludger; Nuber, Silke; Petrasch-Parwez, Elisabeth; Gierga, Kristin; Wszolek, Zbigniew K; Dickson, Dennis W; Gai, Wei P.; Bornemann, Antje; Riess, Olaf; Rami, Abdelhaq; Den Dunnen, Wilfried F A; Deller, Thomas; Rüb, Udo; Krüger, Rejko.

In: Annals of Neurology, Vol. 67, No. 5, 05.2010, p. 684-689.

Research output: Contribution to journalArticle

Seidel, K, Schöls, L, Nuber, S, Petrasch-Parwez, E, Gierga, K, Wszolek, ZK, Dickson, DW, Gai, WP, Bornemann, A, Riess, O, Rami, A, Den Dunnen, WFA, Deller, T, Rüb, U & Krüger, R 2010, 'First appraisal of brain pathology owing to A30P mutant alpha-synuclein', Annals of Neurology, vol. 67, no. 5, pp. 684-689. https://doi.org/10.1002/ana.21966
Seidel K, Schöls L, Nuber S, Petrasch-Parwez E, Gierga K, Wszolek ZK et al. First appraisal of brain pathology owing to A30P mutant alpha-synuclein. Annals of Neurology. 2010 May;67(5):684-689. https://doi.org/10.1002/ana.21966
Seidel, Kay ; Schöls, Ludger ; Nuber, Silke ; Petrasch-Parwez, Elisabeth ; Gierga, Kristin ; Wszolek, Zbigniew K ; Dickson, Dennis W ; Gai, Wei P. ; Bornemann, Antje ; Riess, Olaf ; Rami, Abdelhaq ; Den Dunnen, Wilfried F A ; Deller, Thomas ; Rüb, Udo ; Krüger, Rejko. / First appraisal of brain pathology owing to A30P mutant alpha-synuclein. In: Annals of Neurology. 2010 ; Vol. 67, No. 5. pp. 684-689.
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