The rare and the common: An Austrian DRPLA family harboring the European haplotype.

Adult Austria Europe Female Founder Effect Haplotypes Humans Male Middle Aged Myoclonic Epilepsies, Progressive / genetics Nerve Tissue Proteins / genetics Pedigree
Ataxia DRPLA Dentatorubral-pallidoluysian atrophy Epilepsy Founder mutation Haplotype

Journal

Parkinsonism & related disorders
ISSN: 1873-5126
Titre abrégé: Parkinsonism Relat Disord
Pays: England
ID NLM: 9513583

Informations de publication

Date de publication:
06 2021
Historique:
received: 16 02 2021
revised: 17 04 2021
accepted: 25 04 2021
pubmed: 23 5 2021
medline: 27 1 2022
entrez: 22 5 2021
Statut: ppublish

Résumé

Dentatorubral-pallidoluysian atrophy (DRPLA) is a CAG trinucleotide repeat expansion disorder with an autosomal-dominant mode of inheritance and very low prevalence in Europe. We herein report the clinical characteristics of the first Austrian DRPLA family. Genetic analysis revealed the presence of a common European haplotype, suggesting a founder mutation in Europe.

Identifiants

DOI: 10.1016/j.parkreldis.2021.04.024 PMID: 34022586
pubmed: 34022586
pii: S1353-8020(21)00157-7
doi: 10.1016/j.parkreldis.2021.04.024
pii:
doi:

Substances chimiques

Nerve Tissue Proteins 0
atrophin-1 0

Types de publication

Case Reports Letter Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

119-121

Informations de copyright

Copyright © 2021. Published by Elsevier Ltd.

Auteurs

Matthias Amprosi (M)

Center for Rare Neurological Movement Disorders, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.

Michael Zech (M)

Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany.

Peter Lichtner (P)

Core Facility NGS, Helmholtz Zentrum München, Munich, Germany.

Gertrud Eckstein (G)

Core Facility NGS, Helmholtz Zentrum München, Munich, Germany.

Iris Unterberger (I)

Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.

Andreas Eigentler (A)

Center for Rare Neurological Movement Disorders, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.

Elisabetta Indelicato (E)

Center for Rare Neurological Movement Disorders, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.

Gertraud Puttinger (G)

Department of Neurology 1, Kepler University Hospital, Johannes Kepler University Linz, Linz, Austria.

Wolfgang Nachbauer (W)

Center for Rare Neurological Movement Disorders, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria. Electronic address: wolfgang.nachbauer@i-med.ac.at.

Sylvia Boesch (S)

Center for Rare Neurological Movement Disorders, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › The rare and the common: An Austrian DRPLA...
questionsmedicales.fr › Régions géographiques › Europe › Autriche › The rare and the common: An Austrian DRPLA...
questionsmedicales.fr › Régions géographiques › Europe › The rare and the common: An Austrian DRPLA...
questionsmedicales.fr › Phénomènes génétiques › Effet fondateur › The rare and the common: An Austrian DRPLA...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Haplotypes › The rare and the common: An Austrian DRPLA...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › The rare and the common: An Austrian DRPLA...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › The rare and the common: An Austrian DRPLA...
questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Encéphalopathies › Épilepsie › Syndromes épileptiques › Épilepsies myocloniques › Épilepsies myocloniques progressives › The rare and the common: An Austrian DRPLA...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de tissu nerveux › The rare and the common: An Austrian DRPLA...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Pedigree › The rare and the common: An Austrian DRPLA...