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

Seidel, Kay; Schols, 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; Rub, Udo; Krüger, Rejko

doi:10.1002/ana.21966

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


	Document type :	Scientific journals : Article
	Discipline(s) :	Life sciences : Genetics & genetic processes
	To cite this reference:	http://hdl.handle.net/10993/17169

Title :	First appraisal of brain pathology owing to A30P mutant alpha-synuclein.
Language :	English
Author, co-author :	Seidel, Kay [> >]
	Schols, 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 [> >]
	Rub, Udo [> >]
	Krüger, Rejko [University of Luxembourg > Faculty of Science, Technology and Communication (FSTC) > Life Science Research Unit]
Publication date :	2010
Journal title :	Annals of neurology
Volume :	67
Issue/season :	5
Pages :	684-9
Peer reviewed :	Yes (verified by ORBi^lu)
ISSN :	0364-5134
e-ISSN :	1531-8249
Country :	United States
Keywords :	[en] Aged ; Alanine/genetics ; Brain/pathology/ultrastructure ; Brain Diseases/genetics/pathology ; Family Health ; Glial Fibrillary Acidic Protein/metabolism ; Humans ; Inclusion Bodies/pathology ; Male ; Mutation/genetics ; Proline/genetics ; alpha-Synuclein/genetics
Abstract :	[en] 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.
Research centres :	Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)
Permalink :	http://hdl.handle.net/10993/17169
DOI :	10.1002/ana.21966

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