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

Titel:: The rare and the common: An Austrian DRPLA family harboring the European haplotype.
Dokumenttyp:: Case Reports; Letter; Research Support, Non-U.S. Gov't
Autor(en):: Amprosi, Matthias; Zech, Michael; Lichtner, Peter; Eckstein, Gertrud; Unterberger, Iris; Eigentler, Andreas; Indelicato, Elisabetta; Puttinger, Gertraud; Nachbauer, Wolfgang; Boesch, Sylvia
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.
Zeitschriftentitel:: Parkinsonism Relat Disord
Jahr:: 2021
Band / Volume:: 87
Seitenangaben Beitrag:: 119-121
Volltext / DOI:: doi:10.1016/j.parkreldis.2021.04.024
PubMed:: http://view.ncbi.nlm.nih.gov/pubmed/34022586
Print-ISSN:: 1353-8020
TUM Einrichtung:: Lehrstuhl für Neurogenetik (Prof. Winkelmann)
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