The Role of Genetic Testing in the Clinical Practice and Research of Early-Onset Parkinsonian Disorders in a Hungarian Cohort: Increasing Challenge in Genetic Counselling, Improving Chances in Stratification for Clinical Trials.
Parkinsonian disorders
Parkinsonism
Parkinson’s disease
early- onset
genetic risk
monogenic forms
next-generation sequencing
risk factors
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2019
2019
Historique:
received:
30
04
2019
accepted:
03
10
2019
entrez:
19
11
2019
pubmed:
19
11
2019
medline:
19
11
2019
Statut:
epublish
Résumé
The genetic analysis of early-onset Parkinsonian disorder (EOPD) is part of the clinical diagnostics. Several genes have been implicated in the genetic background of Parkinsonism, which is clinically indistinguishable from idiopathic Parkinson's disease. The identification of patient's genotype could support clinical decision-making process and also track and analyse outcomes in a comprehensive fashion. The aim of our study was to analyse the genetic background of EOPD in a Hungarian cohort and to evaluate the clinical usefulness of different genetic investigations. The age of onset was between 25 and 50 years. To identify genetic alterations, multiplex ligation-dependent probe amplification (n = 142), Sanger sequencing of the most common PD-associated genes (n = 142), and next-generation sequencing (n = 54) of 127 genes which were previously associated to neurodegenerative disorders were carried out. The genetic analysis identified several heterozygous damaging substitutions in PD-associated genes (
Identifiants
pubmed: 31737044
doi: 10.3389/fgene.2019.01061
pmc: PMC6837163
doi:
Types de publication
Journal Article
Langues
eng
Pagination
1061Informations de copyright
Copyright © 2019 Illés, Csabán, Grosz, Balicza, Gézsi, Molnár, Bencsik, Gál, Klivényi and Molnar.
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