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

Matthias Amprosi; Michael Zech; Peter Lichtner; Gertrud Eckstein; Iris Unterberger; Andreas Eigentler; Elisabetta Indelicato; Gertraud Puttinger; Wolfgang Nachbauer; Sylvia Boesch

doi:10.1016/j.parkreldis.2021.04.024

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

Parkinsonism Relat Disord. 2021 Jun:87:119-121. doi: 10.1016/j.parkreldis.2021.04.024. Epub 2021 May 12.

Affiliations

¹ Center for Rare Neurological Movement Disorders, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
² Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
³ Core Facility NGS, Helmholtz Zentrum München, Munich, Germany.
⁴ Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
⁵ Department of Neurology 1, Kepler University Hospital, Johannes Kepler University Linz, Linz, Austria.
⁶ Center for Rare Neurological Movement Disorders, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria. Electronic address: wolfgang.nachbauer@i-med.ac.at.

PMID: 34022586
DOI: 10.1016/j.parkreldis.2021.04.024

Abstract

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.

Keywords: Ataxia; DRPLA; Dentatorubral-pallidoluysian atrophy; Epilepsy; Founder mutation; Haplotype.

Publication types

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

MeSH terms

Adult
Austria
Europe
Female
Founder Effect
Haplotypes
Humans
Male
Middle Aged
Myoclonic Epilepsies, Progressive / genetics*
Nerve Tissue Proteins / genetics*
Pedigree

Substances

Nerve Tissue Proteins
atrophin-1