Reference : First appraisal of brain pathology owing to A30P mutant alpha-synuclein.
Scientific journals : Article
Life sciences : Genetics & genetic processes
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 mailto [University of Luxembourg > Faculty of Science, Technology and Communication (FSTC) > Life Science Research Unit]
Annals of neurology
Yes (verified by ORBilu)
United States
[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
[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.
Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)

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