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.
Berge Minassian is a Pediatrics specialist and a Neurologist in Dallas, Texas. Dr. Minassian has been practicing medicine for over 30 years and is rated as an Elite doctor by MediFind in the treatment of Dentatorubral-Pallidoluysian Atrophy. He is also highly rated in 25 other conditions, according to our data. His top areas of expertise are Dentatorubral-Pallidoluysian Atrophy, Lafora Disease, Epilepsy with Myoclonic-Atonic Seizures, and Myoclonus Epilepsy Partial Seizure. He is board certified in Pediatric Medicine and Neurology and licensed to treat patients in Texas. Dr. Minassian is currently accepting new patients.
Saija Ahonen is in Toronto, Canada. Ahonen is rated as an Elite expert by MediFind in the treatment of Dentatorubral-Pallidoluysian Atrophy. She is also highly rated in 10 other conditions, according to our data. Her top areas of expertise are Lafora Disease, Dentatorubral-Pallidoluysian Atrophy, Progressive Myoclonic Epilepsy, and Epilepsy with Myoclonic-Atonic Seizures.
Roberto Michelucci is in Bologna, Italy. Michelucci is rated as an Elite expert by MediFind in the treatment of Dentatorubral-Pallidoluysian Atrophy. He is also highly rated in 23 other conditions, according to our data. His top areas of expertise are Lafora Disease, Dentatorubral-Pallidoluysian Atrophy, Autosomal Dominant Partial Epilepsy with Auditory Features, and Partial Familial Epilepsy.
Published Date:updated Last, November
Published By: National Institutes of Health