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

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 m...

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Published in:Annals of neurology 2010-05, Vol.67 (5), p.684-689
Main Authors: 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
Format: Article
Language:English
Subjects:
Aged
Alanine - genetics
alpha-Synuclein - genetics
Biological and medical sciences
Brain - pathology
Brain - ultrastructure
Brain Diseases - genetics
Brain Diseases - pathology
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Family Health
Glial Fibrillary Acidic Protein - metabolism
Humans
Inclusion Bodies - pathology
Male
Medical sciences
Mutation - genetics
Neurology
Proline - genetics
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Summary: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. ANN NEUROL 2010;67:684–689
ISSN:0364-5134
1531-8249
DOI:10.1002/ana.21966