Learn About Spinocerebellar Ataxia Type 2

What is the definition of Spinocerebellar Ataxia Type 2?

Spinocerebellar ataxia type 2 (SCA2) 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 SCA2 include additional movement problems, speech and swallowing difficulties, and weakness in the muscles that control eye movement (ophthalmoplegia). Eye muscle weakness leads to involuntary back-and-forth eye movements (nystagmus) and a decreased ability to make rapid eye movements (saccadic slowing).

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What are the causes of Spinocerebellar Ataxia Type 2?

Mutations in the ATXN2 gene cause SCA2. The ATXN2 gene provides instructions for making a protein called ataxin-2. This protein is found throughout the body, but its function is unknown. Ataxin-2 is found in the fluid inside cells (cytoplasm), where it appears to interact with a cell structure called the endoplasmic reticulum. The endoplasmic reticulum is involved in protein production, processing, and transport. Researchers believe that ataxin-2 may be involved in processing RNA, a chemical cousin of DNA. Ataxin-2 is also thought to play a role in the production of proteins from RNA (translation of DNA's genetic information).

How prevalent is Spinocerebellar Ataxia Type 2?

The prevalence of SCA2 is unknown. This condition is estimated to be one of the most common types of spinocerebellar ataxia; however, all types of spinocerebellar ataxia are relatively rare. SCA2 is more common in Cuba, particularly in the Holguín province, where approximately 40 per 100,000 individuals are affected.

Is Spinocerebellar Ataxia Type 2 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. An affected person usually inherits the altered gene from one affected parent. However, some people with SCA2 do not have a parent with the disorder. Individuals who have an increase in the number of CAG repeats in the ATXN2 gene, but do not develop SCA2, are at risk of having children who will develop the disorder.

Who are the top Spinocerebellar Ataxia Type 2 Local Doctors?
Elite
Highly rated in
46
conditions
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 2. 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.

Elite
Highly rated in
19
conditions

Centre For The Research And Rehabilitation Of Hereditary Ataxias

Cuban Academy Of Sciences, Cuba St 460 
La Habana Vieja, CU 

Luis Perez-Velazquez is in La Habana Vieja, Cuba. Perez-Velazquez is rated as an Elite expert by MediFind in the treatment of Spinocerebellar Ataxia Type 2. He is also highly rated in 19 other conditions, according to our data. His top areas of expertise are Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 6, Spinocerebellar Ataxia Type 7, and Spinocerebellar Ataxia Type 5.

 
 
 
 
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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 2. She is also highly rated in 33 other conditions, according to our data. Her top areas of expertise are Striatonigral Degeneration Infantile, Spinocerebellar Ataxia Type 3, Spinocerebellar Ataxia Type 1, and Olivopontocerebellar Atrophy.

What are the latest Spinocerebellar Ataxia Type 2 Clinical Trials?
Phenotypes, Biomarkers and Pathophysiology in Spastic Ataxias
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Feasibility of Whole-body MRI for Cancer Surveillance in Children and Young People With Ataxia Telangiectasia
Who are the sources who wrote this article ?

Published Date:updated Last, December

Published By: National Institutes of Health

What are the Latest Advances for Spinocerebellar Ataxia Type 2?
Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial.
Cortical and Subcortical Brain Area Atrophy in SCA1 and SCA2 Patients in India: The Structural MRI Underpinnings and Correlative Insight Among the Atrophy and Disease Attributes.
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Atypical Phenotype in a Spinocerebellar Ataxia Type 2 Kindred.