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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关键词

Ataxia,Epilepsy,Dentatorubral-pallidoluysian atrophy,DRPLA,Founder mutation,Haplotype

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