Dentatorubral-Pallidoluysian AtrophySymptoms, Doctors, Treatments, Advances & More
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 North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.
Summary: This study will test the safety and efficacy of multiple doses of ION283 administered as intrathecal (IT) injections by lumbar puncture (LP). All subjects will receive ION283. The dose level of 15 mg will be studied in all subjects.
Published Date: December 05, 2023
Published By: National Institutes of Health