α-Synuclein Deposition in Sympathetic Nerve Fibers in Genetic Forms of Parkinson's Disease
| Autor: | Sonja W. Scholz, Angela Kokkinis, William Zhu, Ellen Sidransky, Alice B. Schindler, Risa Isonaka, Marya S. Sabir, Esther Yoon, David S. Goldstein, Grisel Lopez, Pedro Gonzalez-Alegre, Sara Bandres-Ciga, Derek P. Narendra, Cornelis Blauwendraat, Debra Ehrlich |
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| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Parkinson's disease medicine.disease_cause Parkin Article 03 medical and health sciences 0302 clinical medicine Nerve Fibers Internal medicine Genotype medicine Humans Mutation medicine.diagnostic_test business.industry PARK7 Colocalization Parkinson Disease medicine.disease LRRK2 nervous system diseases 030104 developmental biology Endocrinology Cross-Sectional Studies nervous system Neurology Skin biopsy alpha-Synuclein Neurology (clinical) business 030217 neurology & neurosurgery |
| Zdroj: | Mov Disord |
| ISSN: | 1531-8257 |
| Popis: | BACKGROUND: Cytoplasmic inclusions of α-synuclein in brainstem neurons are characteristic of idiopathic Parkinson’ disease. Parkinson’s disease also entails α-synuclein buildup in sympathetic nerves. Among genetic forms of Parkinson’s disease the relative extents of sympathetic intra-neuronal accumulation of α-synuclein have not been reported. OBJECTIVE: This cross-sectional observational study compared magnitudes of intra-neuronal deposition of α-synuclein in common and rare genetic forms of Parkinson’s disease. METHODS: α-Synuclein deposition was quantified by the α-synuclein-tyrosine hydroxylase colocalization index in C2 cervical skin biopsies from 65 subjects. These included 30 subjects with pathogenic mutations in SNCA (N=3), PRKN (biallelic [N=7] and monoallelic [N=3]), LRRK2 (N=7), GBA (N=7), or PARK7/DJ1 (biallelic [N=1] and monoallelic [N=2]). 25 of the mutation carriers had Parkinson’s disease and 5 did not. Data were also analyzed from 19 idiopathic Parkinson’s disease patients and 16 control participants. RESULTS: α-Synuclein deposition varied as a function of genotype (F=16.7, p |
| Databáze: | OpenAIRE |
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