A clinical and genetic study of early‐onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next‐generation sequencing

A clinical and genetic study of early‐onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next‐generation sequencing

Background Recent genetic progress has allowed for the molecular diagnosis of Parkinson's disease. However, genetic causes of PD vary widely in different ethnicities. Mutational frequencies and clinical phenotypes of genes associated with PD in Asian populations are largely unknown. The objecti...

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Veröffentlicht in:Movement disorders 2019-04, Vol.34 (4), p.506-515
Hauptverfasser: Lin, Chin‐Hsien, Chen, Pei‐Lung, Tai, Chun‐Hwei, Lin, Hang‐I, Chen, Chih‐Shan, Chen, Meng‐Ling, Wu, Ruey‐Meei
Format: Artikel
Sprache:eng
Schlagworte:
Adult
Age of Onset
Aged
early onset
Female
Gene Dosage
Genetic Predisposition to Disease
genetics
High-Throughput Nucleotide Sequencing
Humans
Male
Middle Aged
Mutation, Missense
next‐generation sequencing
Parkinson's disease
Parkinsonian Disorders - genetics
parkinsonism
Protein Kinases - genetics
Taiwan
Ubiquitin-Protein Ligases - genetics
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Zusammenfassung:Background Recent genetic progress has allowed for the molecular diagnosis of Parkinson's disease. However, genetic causes of PD vary widely in different ethnicities. Mutational frequencies and clinical phenotypes of genes associated with PD in Asian populations are largely unknown. The objective of this study was to identify the mutational frequencies and clinical spectrums of multiple PD‐causative genes in a Taiwanese PD cohort. Methods A total of 571 participants including 324 patients with early‐onset parkinsonism (onset age,
ISSN:0885-3185
1531-8257
DOI:10.1002/mds.27633