Dokumentdetails
ID
oai:pubmedcentral.nih.gov:8436...
Thema
Regular Issue ArticlesAutor
Toffoli, Marco Higgins, Abigail Lee, Chiao Koletsi, Sofia Chen, Xiao Eberle, Michael Sedlazeck, Fritz J. Mullin, Stephen Proukakis, Christos Schapira, Anthony H.V.Langue
enEditor
John Wiley & Sons, Inc.
Kategorie
Wiley-Blackwell Online Open
Jahr
2021
Auflistungsdatum
01.12.2023
Schlüsselwörter
study parkinson age diagnosis cohort haplotypes diseaseZusammenfassung
BACKGROUND: GBA mutations are a common risk factor for Parkinson's disease (PD).
A recent study has suggested that GBA haplotypes, identified by intronic variants, can affect age at diagnosis of PD.
OBJECTIVES: In this study, we assess this hypothesis using long reads across a large cohort and the publicly available Accelerating Medicines Partnership–Parkinson's Disease (AMP‐PD) cohort.
METHODS: We recruited a PD cohort through the Remote Assessment of Parkinsonism Supporting Ongoing Development of Interventions in Gaucher Disease study (RAPSODI) and sequenced GBA using Oxford Nanopore technology.
Genetic and clinical data on the full AMP‐PD cohort were obtained from the online portal of the consortium.
RESULTS: A total of 1417 participants were analyzed.
There was no significant difference in age at PD diagnosis between the two main haplotypes of the GBA gene.
CONCLUSIONS: GBA haplotypes do not affect age at diagnosis of PD in the two independent cohorts studied.
© 2021 The Authors.
Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society
Toffoli, Marco,Higgins, Abigail,Lee, Chiao,Koletsi, Sofia,Chen, Xiao,Eberle, Michael,Sedlazeck, Fritz J.,Mullin, Stephen,Proukakis, Christos,Schapira, Anthony H.V., 2021, Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease, John Wiley & Sons, Inc.
MELAS: Phenotype Classification into Classic-versus-Atypical Presentations
presentations mitochondrial strokelike patients variability phenotype clinical melas
