DRPLA.Synonym: Dentatorubral-Pallidoluysian Atrophy

GeneReviews, an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families. Each chapter in GeneReviews is written by one or more experts on the specific condition or disease and goes through a rigorous editing and peer review process before being published online. In this chapter Dr VENEZIANO and Dr FRONTALI revises the Clinical characteristics, Diagnosis, testing, Management and Genetic counseling of Dentatorubral-pallidoluysian atrophy, commonly known as DRPLA, a progressive brain disorder that causes involuntary movements, mental and emotional problems.