Related Experiment Video
Updated: Jun 15, 2026

Abbiategrasso Brain Bank Protocol for Collecting, Processing and Characterizing Aging Brains
Published on: June 3, 2020
Dentatorubral pallidoluysian atrophy in a Turkish family
Uluç Yiş1, Eray Dirik, Asli Gündoğdu-Eken
1Division of Child Neurology, Gaziantep Children's Hospital, Gaziantep, Turkey.
Abstract:
Dentatorubral pallidoluysian atrophy is a neurodegenerative disease that generally presents in adulthood. Although rare, it can be observed in childhood due to extreme expansion of the triplet repeat size during spermatogenesis. The diagnosis in childhood is very difficult in the absence of family history. Here we describe a 12-year-old girl with dentatorubral pallidoluysian atrophy who presented with progressive myoclonic epilepsy and ataxia. Family history exhibited similarly affected cases on the paternal side. Molecular testing for dentatorubral pallidoluysian atrophy revealed abnormal "cytosine-adenine-guanosine" expansion in the atrophin-1 gene.
Related Concept Videos
Huntington Disease l: Introduction
Pedigree Analysis
Lysosomal Hydrolases
Alzheimer Disease l: Introduction
Parkinson Disease l: Introduction
Parkinson Disease ll: Pathophysiology

