Spinocerebellar ataxia type 6 (SCA6) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA6 include speech difficulties, involuntary eye movements (nystagmus), and double vision. Over time, individuals with SCA6 may develop loss of coordination in their arms, tremors, and uncontrolled muscle tensing (dystonia).
Mutations in the CACNA1A gene cause SCA6. The CACNA1A gene provides instructions for making a protein that forms a part of some calcium channels. These channels transport positively charged calcium atoms (calcium ions) across cell membranes. The movement of these ions is critical for normal signaling between nerve cells (neurons) in the brain and other parts of the nervous system. The CACNA1A gene provides instructions for making one part (the alpha-1 subunit) of a calcium channel called CaV2.1. CaV2.1 channels play an essential role in communication between neurons in the brain.
The worldwide prevalence of SCA6 is estimated to be less than 1 in 100,000 individuals.
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.
Susan Perlman is a Neurologist in Los Angeles, California. Dr. Perlman has been practicing medicine for over 47 years and is rated as an Elite doctor by MediFind in the treatment of Spinocerebellar Ataxia Type 6. She is also highly rated in 46 other conditions, according to our data. Her top areas of expertise are Acute Cerebellar Ataxia, Spinocerebellar Ataxia, Hereditary Ataxia, and Friedreich Ataxia. She is licensed to treat patients in California. Dr. Perlman is currently accepting new patients.
Alexandra Durr is in Paris, France. Durr is rated as an Elite expert by MediFind in the treatment of Spinocerebellar Ataxia Type 6. She is also highly rated in 53 other conditions, according to our data. Her top areas of expertise are Acute Cerebellar Ataxia, Cerebellar Degeneration, Harding Ataxia, and Hereditary Ataxia.
Laura Jardim is in Porto Alegre, Brazil. Jardim is rated as an Elite expert by MediFind in the treatment of Spinocerebellar Ataxia Type 6. She is also highly rated in 33 other conditions, according to our data. Her top areas of expertise are Spinocerebellar Ataxia Type 3, Striatonigral Degeneration Infantile, Spinocerebellar Ataxia Type 1, and Olivopontocerebellar Atrophy.
Published Date: February 01, 2011Published By: National Institutes of Health