Learn About Spinocerebellar Ataxia Type 6

What is the definition of Spinocerebellar Ataxia Type 6?

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).

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What are the causes of Spinocerebellar Ataxia Type 6?

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.

How prevalent is Spinocerebellar Ataxia Type 6?

The worldwide prevalence of SCA6 is estimated to be less than 1 in 100,000 individuals.

Is Spinocerebellar Ataxia Type 6 an inherited disorder?

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.

Who are the top Spinocerebellar Ataxia Type 6 Local Doctors?
Elite
Highly rated in
46
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Neurology

UCLA Health System

Westwood - Neurological Services

300 Ucla Medical Plz 
Los Angeles, CA 90095

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.

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Highly rated in
53
conditions

Hôpital Pitié Salpêtrière

Sorbonne Université, Paris Brain Institute 
Paris, FR 

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.

 
 
 
 
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Elite
Highly rated in
33
conditions

Hospital De Clínicas De Porto Alegre

Porto Alegre, RS, BR 

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.

What are the latest Spinocerebellar Ataxia Type 6 Clinical Trials?
Neuropsychiatry and Cognition in the Context of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD)
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A Clinical Research on the Safety/Efficacy of Umbilical Cord Mesenchymal Stem Cells Therapy for Patients With Spinocerebellar Ataxia
Who are the sources who wrote this article ?

Published Date: February 01, 2011Published By: National Institutes of Health

What are the Latest Advances for Spinocerebellar Ataxia Type 6?
Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial.
Effectiveness of Robotic Exoskeleton-Assisted Gait Training in Spinocerebellar Ataxia: A Case Report.
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Current Status of Gene Therapy Research in Polyglutamine Spinocerebellar Ataxias.