The sooner, the later - Delayed diagnosis in Parkinson's disease due to Parkin mutations.


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
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

284-285

Informations de copyright

Copyright © 2019 Elsevier Ltd. All rights reserved.

Auteurs

Max Borsche (M)

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany; Department of Neurology, University Hospital Schleswig-Holstein, Campus Lübeck, Germany. Electronic address: max.borsche@neuro.uni-luebeck.de.

Alexander Balck (A)

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany; Department of Neurology, University Hospital Schleswig-Holstein, Campus Lübeck, Germany. Electronic address: alexander.balck@neuro.uni-luebeck.de.

Meike Kasten (M)

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany. Electronic address: meike.kasten@neuro.uni-luebeck.de.

Katja Lohmann (K)

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

Christine Klein (C)

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany. Electronic address: christine.klein@neuro.uni-luebeck.de.

Norbert Brüggemann (N)

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany; Department of Neurology, University Hospital Schleswig-Holstein, Campus Lübeck, Germany. Electronic address: norbert.brueggemann@neuro.uni-luebeck.de.

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Classifications MeSH