Dentatorubral-pallidoluysian atrophy, commonly known as 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 of DRPLA is 30 years, but this condition can appear anytime from infancy to mid-adulthood.
DRPLA is caused by a mutation in the ATN1 gene. This gene provides instructions for making a protein called atrophin 1. Although the function of atrophin 1 is unclear, it likely plays an important role in nerve cells (neurons) in many areas of the brain.
DRPLA is most common in the Japanese population, where it has an estimated incidence of 2 to 7 per million people. This condition has also been seen in families from North America and Europe.
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.
Madaline Harrison is a Neurologist in Charlottesville, Virginia. Dr. Harrison has been practicing medicine for over 40 years and is rated as an Advanced doctor by MediFind in the treatment of Dentatorubral-Pallidoluysian Atrophy. She is also highly rated in 35 other conditions, according to our data. Her top areas of expertise are Huntington Disease, Parkinson's Disease, Drug Induced Dyskinesia, Mcleod Neuroacanthocytosis Syndrome, and Deep Brain Stimulation. Dr. Harrison is currently accepting new patients.
Kelly Mills is a Neurologist in Baltimore, Maryland. Dr. Mills has been practicing medicine for over 15 years and is rated as an Advanced doctor by MediFind in the treatment of Dentatorubral-Pallidoluysian Atrophy. He is also highly rated in 22 other conditions, according to our data. His top areas of expertise are Parkinson's Disease, Drug Induced Dyskinesia, Spinocerebellar Ataxia Type 3, Deep Brain Stimulation, and Knee Replacement. Dr. Mills is currently accepting new patients.
Liana Rosenthal is a Neurologist in Baltimore, Maryland. Dr. Rosenthal has been practicing medicine for over 17 years and is rated as an Advanced doctor by MediFind in the treatment of Dentatorubral-Pallidoluysian Atrophy. She is also highly rated in 23 other conditions, according to our data. Her top areas of expertise are Parkinson's Disease, Spinocerebellar Ataxia Type 3, Hereditary Ataxia, and Drug Induced Dyskinesia. Dr. Rosenthal is currently accepting new patients.
Summary: The main goal of the project is provison 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 DRPLA ...
Published Date: November 01, 2008Published By: National Institutes of Health