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

Parkinsonism & related disorders（2021）

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摘要

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.

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