Faculty Opinions recommendation of Homozygous alpha-synuclein p.A53V in familial Parkinson's disease.

2017 ◽  
Author(s):  
Henry Houlden
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Alpha Synuclein ◽  
Familial Parkinson’S Disease

scholarly journals Alpha-synuclein stepwise aggregation reveals features of an early onset mutation in Parkinson’s disease

2019 ◽  
Vol 2 (1) ◽  
Author(s):  
Guilherme A. P. de Oliveira ◽  
Jerson L. Silva
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Early Onset ◽  
Point Mutations ◽  
Alpha Synuclein ◽  
Amyloid Formation ◽  
Wild Type ◽  
Cryo Electron Microscopy ◽  
Familial Parkinson’S Disease ◽  
Direct Detector

Abstract Amyloid formation is a process involving interconverting protein species and results in toxic oligomers and fibrils. Aggregated alpha-synuclein (αS) participates in neurodegenerative maladies, but a closer understanding of the early αS polymerization stages and polymorphism of heritable αS variants is sparse still. Here, we distinguished αS oligomer and protofibril interconversions in Thioflavin T polymerization reactions. The results support a hypothesis reconciling the nucleation-polymerization and nucleation-conversion-polymerization models to explain the dissimilar behaviors of wild-type and the A53T mutant. Cryo-electron microscopy with a direct detector shows the polymorphic nature of αS fibrils formed by heritable A30P, E46K, and A53T point mutations. By showing that A53T rapidly nucleates competent species, continuously elongates fibrils in the presence of increasing amounts of seeds, and overcomes wild-type surface requirements for growth, our findings place A53T with features that may explain the early onset of familial Parkinson’s disease cases bearing this mutation.

scholarly journals Analysis on the Susceptibility Genes in Two Chinese Pedigrees with Familial Parkinson's Disease

2010 ◽  
Vol 2010 ◽  
pp. 1-4
Author(s):  
Changshui Xu ◽  
Jun Xu ◽  
Yanmin Zhang ◽  
Jianjun Ma ◽  
Hideshi Kawakami ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Susceptibility Genes ◽  
Alpha Synuclein ◽  
Missense Mutations ◽  
Chain Reaction ◽  
Disease Protein ◽  
Polymerase Chain ◽  
Familial Parkinson’S Disease ◽  
Exon 10

Objective. To screen the susceptibility genes in Chinese pedigrees with early-onset familial Parkinson's disease (FPD).Methods. Fifty-one genomic DNA samples extracted from two Chinese pedigrees with FPD, the alpha-synuclein genes (SNCA), the leucine-rich repeat kinase 2(LRRK2), PINK1(PTEN-induced putative kinase 1), PARK7(Protein DJ1), PARK2(Parkinson juvenile disease protein 2), the glucocerebrosidase (GBA), and ATP(Ezrin-binding protein PACE-1), were sequenced by the use of polymerase chain reaction (PCR) technique. The gene dose of SNCA was checked.Results. There were only two missense mutations observed, respectively, at exon 5 of LRRK2 and exon 10 of PARK2, and both were enrolled in SNPs.Conclusion. No meaningful mutations could be detected, and other susceptibility genes should be detected in FDP patients in China.

Homozygous alpha-synuclein a53v in familial parkinson's disease

2017 ◽  
Vol 381 ◽  
pp. 161
Author(s):  
K. Nishioka ◽  
M. Hirano ◽  
A.J. Stoessl ◽  
H. Yoshino ◽  
Y. Imamichi ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Alpha Synuclein ◽  
Familial Parkinson’S Disease

Homozygous alpha-synuclein p.A53V in familial Parkinson's disease

2017 ◽  
Vol 57 ◽  
pp. 248.e7-248.e12 ◽  
Author(s):  
Hiroyo Yoshino ◽  
Makito Hirano ◽  
A. Jon Stoessl ◽  
Yoko Imamichi ◽  
Aya Ikeda ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Alpha Synuclein ◽  
Familial Parkinson’S Disease

scholarly journals Alpha-synuclein and familial Parkinson's disease

2009 ◽  
Vol 24 (8) ◽  
pp. 1125-1131 ◽  
Author(s):  
Nathan Pankratz ◽  
William C. Nichols ◽  
Veronika E. Elsaesser ◽  
Michael W. Pauciulo ◽  
Diane K. Marek ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Alpha Synuclein ◽  
Familial Parkinson’S Disease

Pathological findings in a patient with alpha-synuclein p.A53T and familial Parkinson's disease

2020 ◽  
Vol 81 ◽  
pp. 183-187
Author(s):  
Kenya Nishioka ◽  
Yoshio Hashizume ◽  
Masashi Takanashi ◽  
Kensuke Daida ◽  
Yuanzhe Li ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Alpha Synuclein ◽  
Pathological Findings ◽  
Familial Parkinson’S Disease
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