Parkinson's disease (PD) is the second most common age-related neurodegenerative disorder. PD can result from a mutation of alpha-synuclein (α-SNCA), such as α-SNCA A53T. Using episomal vectors, induced pluri
Acta Neuropathologica Communications (2023) 11:72 https://doi.org/10.1186/s40478-023-01570-5 Acta Neuropathologica Communications RESEARCH Open Access The G51D SNCA mutation generates a slowly progressive α‑synuclein strain in early‑onset Parkinson's disease Heather H. C. Lau1,...
Background: The SNCA gene encoding 伪-synuclein (伪Syn) is the first gene identified to cause autosomal-dominant Parkinson's disease (PD). Objective: We report the identification of a novel heterozygous A30G mutation of the SNCA gene in familial PD and describe clinical features of affected ...
Genetic analysis of SNCA coding mutation in Chinese Han patients with Parkinson disease. Acta Neurol. Belg. 2015, 115, 267-271. [CrossRef] [PubMed]S. Deng, X. Deng, L. Yuan, Z. Song, Z. Yang, W. Xiong, H. Deng, Genetic analysis of SNCA coding mutation in Chinese Han patients ...
Human MutationNuytemans K, Theuns J, Cruts M, Van Broeckhoven C (2010) Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update. Hum Mutat 31:763–780
Clinical and neuroimaging features of patient with early-onset Parkinson's disease with dementia carrying SNCA p.G51D mutation. Parkin- sonism Relat. Disord. 20, 262e264.Tokutake, T.; Ishikawa, A.; Yoshimura, N. et al. (2014). Clinical and neuroimaging features of patient with early-...
Objective: To characterize the phenotype of SNCA G209A mutation carriers in familial PD Background: The G209A mutation in the SNCA gene encoding for alpha-synuclein was the first Mendelian genetic defect identified in Parkinson's Disease (Polymeropoulos et al., 1997). The mutation occurred in ...
Clinical and neuroimaging features of patient with early-onset Parkinson's disease with dementia carrying SNCA p.G51D mutation. Parkinsonism Relat Disord 2014;20(2):262-264.Tokutake, T., Ishikawa, A., Yoshimura, N., Miyashita, A., Kuwano, R., Nishizawa, M., Ikeuchi, T., 2014. ...
doi:10.1002/mds.29821Konstantin Senkevich MD, PhDIrina Miliukhina MD, PhDAlexandr Zhuravlev MDMaria Shumilova MD, MScMariia Beletskaia MDTatiana Skvortsova MDEric Yu PhDJamil Ahmad PhDFarnaz Asayesh MScZiv Gan-Or MD, PhDMovement Disorders...
Mutation analysis of the PARKIN,PINK1,DJ1,and SNCA genes in Turkish earlyonset Parkinson’’s patients and genotype-phenotype correlations. ERER S,EGELI U,ZARIFOGLU M,et al. Clinical Neurology and Neurosurgery . 2016Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese ...