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.
University Of Alabama Health Services Foundation, PC
Talene Yacoubian is a Neurologist in Birmingham, Alabama. Dr. Yacoubian and is rated as an Advanced provider by MediFind in the treatment of Dentatorubral-Pallidoluysian Atrophy. Her top areas of expertise are Parkinson's Disease, Progressive Supranuclear Palsy Atypical, Progressive Supranuclear Palsy, Thalamotomy, and Myringotomy. Dr. Yacoubian is currently accepting new patients.
University Of Alabama Health Services Foundation, PC
David Geldmacher is a Neurologist in Birmingham, Alabama. Dr. Geldmacher and is rated as an Experienced provider by MediFind in the treatment of Dentatorubral-Pallidoluysian Atrophy. His top areas of expertise are Dementia, Alzheimer's Disease, Cerebellar Degeneration, and Memory Loss. Dr. Geldmacher is currently accepting new patients.
University Of Alabama Health Services Foundation, PC
Juliana Coleman is a Neurologist in Birmingham, Alabama. Dr. Coleman and is rated as an Experienced provider by MediFind in the treatment of Dentatorubral-Pallidoluysian Atrophy. Her top areas of expertise are Essential Tremor, Parkinson's Disease, Opsoclonus-Myoclonus Syndrome, and Spinocerebellar Ataxia Type 31. Dr. Coleman is currently accepting new patients.
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...
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