Spinocerebellar ataxia type 1 (SCA1) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other signs and symptoms of SCA1 include speech and swallowing difficulties, muscle stiffness (spasticity), and weakness in the muscles that control eye movement (ophthalmoplegia). Eye muscle weakness leads to rapid, involuntary eye movements (nystagmus). Individuals with SCA1 may have difficulty processing, learning, and remembering information (cognitive impairment).
Mutations in the ATXN1 gene cause SCA1. The ATXN1 gene provides instructions for making a protein called ataxin-1. This protein is found throughout the body, but its function is unknown. Within cells, ataxin-1 is located in the nucleus. Researchers believe that ataxin-1 may be involved in regulating various aspects of producing proteins, including the first stage of protein production (transcription) and processing RNA, a chemical cousin of DNA.
SCA1 affects 1 to 2 per 100,000 people worldwide.
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. An affected person usually inherits the altered gene from one affected parent. However, some people with SCA1 do not have a parent with the disorder.
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 Spinocerebellar Ataxia Type 1. 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 Spinocerebellar Ataxia Type 1. 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 Spinocerebellar Ataxia Type 1. 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.
Published Date: February 01, 2011Published By: National Institutes of Health