The sooner, the later - Delayed diagnosis in Parkinson's disease due to Parkin mutations.
Diagnostic delay
EO-PD
Genetic testing
Parkin
Parkinson's disease
Journal
Parkinsonism & related disorders
ISSN: 1873-5126
Titre abrégé: Parkinsonism Relat Disord
Pays: England
ID NLM: 9513583
Informations de publication
Date de publication:
08 2019
08 2019
Historique:
received:
20
03
2019
revised:
15
06
2019
accepted:
22
06
2019
pubmed:
1
7
2019
medline:
1
7
2020
entrez:
1
7
2019
Statut:
ppublish
Résumé
The diagnosis of Parkinson's disease (PD) in patients carrying mutations in the Parkin gene is frequently delayed. We confirmed this finding in a sample of nine biallelic Parkin-PD patients with a mean delay of nine years and found an inverse relationship between diagnostic delay and age at onset.
Identifiants
pubmed: 31255538
pii: S1353-8020(19)30283-4
doi: 10.1016/j.parkreldis.2019.06.020
pii:
doi:
Substances chimiques
Ubiquitin-Protein Ligases
EC 2.3.2.27
parkin protein
EC 2.3.2.27
Types de publication
Letter
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
284-285Informations de copyright
Copyright © 2019 Elsevier Ltd. All rights reserved.