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  • Title: The rare and the common: An Austrian DRPLA family harboring the European haplotype.
    Author: Amprosi M, Zech M, Lichtner P, Eckstein G, Unterberger I, Eigentler A, Indelicato E, Puttinger G, Nachbauer W, Boesch S.
    Journal: Parkinsonism Relat Disord; 2021 Jun; 87():119-121. PubMed ID: 34022586.
    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.
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