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.
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