Dentatorubral-Pallidoluysian Atrophy Overview
Learn About Dentatorubral-Pallidoluysian Atrophy
Dentatorubral-pallidoluysian atrophy (DRPLA) is a progressive brain disorder that causes involuntary movements, mental and emotional problems, and a decline in thinking ability. The average age of onset for DRPLA is around 30 years, but this condition can appear any time between infancy and mid-adulthood.
DRPLA is caused by a variant (also called mutation) in the ATN1 gene. This gene provides instructions for making a protein called atrophin 1. Although the exact function of atrophin 1 is unknown, it appears to play an important role in nerve cells (neurons) in many areas of the brain.
DRPLA is most common in the Japanese population, where it is estimated to affect 2 to 7 per million people. However, this condition has also been seen in families around world.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.
Samuel Berkovic practices in Heidelberg, Australia. Mr. Berkovic is rated as an Elite expert by MediFind in the treatment of Dentatorubral-Pallidoluysian Atrophy. His top areas of expertise are Myoclonic Epilepsy, Epilepsy, Partial Familial Epilepsy, and Epilepsy with Myoclonic-Atonic Seizures.
Reetta Kalviainen practices in Kuopio, Finland. Kalviainen is rated as an Elite expert by MediFind in the treatment of Dentatorubral-Pallidoluysian Atrophy. Their top areas of expertise are Unverricht-Lundborg Syndrome, Dentatorubral-Pallidoluysian Atrophy, Lafora Disease, and Myoclonic Epilepsy.
Laura Canafoglia practices in Milan, Italy. Ms. Canafoglia is rated as an Elite expert by MediFind in the treatment of Dentatorubral-Pallidoluysian Atrophy. Her top areas of expertise are Dentatorubral-Pallidoluysian Atrophy, Lafora Disease, Myoclonic Epilepsy, Epilepsy with Myoclonic-Atonic Seizures, and Gastrostomy.
Summary: The main goal of the project is provision of a global registry for mitochondrial disorders to harmonize previous national registries, enable world-wide participation and facilitate natural history studies, definition of outcome measures and conduction of clinical trials.
Summary: The objective of the CureDRPLA Global Patient Registry is to establish a longitudinal database of patient-reported data on individuals affected with Dentatorubral-pallidoluysian atrophy (DRPLA) from anywhere in the world. The CureDRPLA Global Patient Registry will address patient needs by: * Expanding patient engagement by documenting quality of life outcomes. * Providing anonymized data to the DR...
Published Date: December 05, 2023
Published By: National Institutes of Health