scholarly journals Diagnostic exome sequencing in early-onset Parkinson's disease confirmsVPS13Cas a rare cause of autosomal-recessive Parkinson's disease

2018 ◽  
Vol 93 (3) ◽  
pp. 603-612 ◽  
Author(s):  
B. Schormair ◽  
D. Kemlink ◽  
B. Mollenhauer ◽  
O. Fiala ◽  
G. Machetanz ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Exome Sequencing ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Early Onset Parkinson’S Disease

Utility and implications of exome sequencing in early‐onset Parkinson's disease

2018 ◽  
Vol 34 (1) ◽  
pp. 133-137 ◽  
Author(s):  
Joanne Trinh ◽  
Katja Lohmann ◽  
Hauke Baumann ◽  
Alexander Balck ◽  
Max Borsche ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Exome Sequencing ◽  
Early Onset ◽  
Early Onset Parkinson’S Disease

scholarly journals Whole exome sequencing identified a new compound heterozygous PRKN mutation in a Chinese family with early-onset Parkinson’s disease

2020 ◽  
Vol 40 (5) ◽  
Author(s):  
Tianbai Li ◽  
Daqing Kou ◽  
Yanhua Cui ◽  
Weidong Le
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Early Onset ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Therapy Strategy ◽  
Whole Exome ◽  
Early Onset Parkinson’S Disease

Abstract Early-onset Parkinson’s disease (EOPD) is usually caused by genetic variants and patients with EOPD develop symptoms before the age of 50, accounting for 5% Parkinson’s disease (PD). Here we present a Chinese Han pedigree with clinical features of EOPD. To determine the diagnosis and pathogenic mutations of this pedigree, whole exome sequencing, Sanger sequencing and real-time quantitative PCR were performed to detect all the four family members. Our results showed that a new form of compound heterozygous mutation in the PRKN gene, consisting of heterozygous point mutation c.850G > C (p.G284R) along with exon 4 deletion, is the causative genetic factor for EOPD in this pedigree. These discoveries may have implications for genetic counseling, clinical management and developing PRKN target gene therapy strategy.

Whole-exome sequencing in early-onset Parkinson's disease among ethnic Chinese

2020 ◽  
Vol 90 ◽  
pp. 150.e5-150.e11 ◽  
Author(s):  
Nannan Li ◽  
Ling Wang ◽  
Jinhong Zhang ◽  
Eng-King Tan ◽  
Junying Li ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Early Onset ◽  
Ethnic Chinese ◽  
Whole Exome ◽  
Early Onset Parkinson’S Disease

„Early Onset Parkinson's Disease“: Korrelation zwischen Alter bei Krankheitsbeginn und Verlauf?

2005 ◽  
Vol 32 (S 1) ◽  
Author(s):  
A Janzen ◽  
B Winner ◽  
M Lange ◽  
Z Kohl ◽  
K Pfeifer ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Early Onset ◽  
Early Onset Parkinson’S Disease
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