Spinocerebellar ataxia 3

Common Name(s)

Spinocerebellar ataxia 3, Azorean disease, Spinocerebellar Ataxia Type 3 (SCA 3)

Spinocerebellar ataxia 3 is a rare movement disorder that is characterized by ataxia, clumsiness and weakness in the arms and legs, spasticity, a staggering lurching walk easily mistaken for drunkenness, difficulty with speech and swallowing, involuntary eye movements, double vision, and frequent urination. Some patients have dystonia or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, or bulging eyes. Symptoms can begin any time between early adolescence and about 70 years of age. Spinocerebellar ataxia 3 is a progressive disease, meaning that symptoms get worse with time. Life expectancy ranges from the mid-thirties for those with severe forms of the disorder to a normal life expectancy for those with mild forms. Spinocerebellar ataxia is inherited in an autosomal dominant pattern and is caused by a trinucleotide repeat expansion in the ataxin-3 gene (ATXN3).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinocerebellar ataxia 3" for support, advocacy or research.

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National Ataxia Foundation

The National Ataxia Foundation is dedicated to improving the lives of persons affected by ataxia through support, education, and research.

http://www.ataxia.org

Last Updated: 12 Dec 2012

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinocerebellar ataxia 3" for support, advocacy or research.

Logo
National Ataxia Foundation

The National Ataxia Foundation is dedicated to improving the lives of persons affected by ataxia through support, education, and research.

http://www.ataxia.org

Last Updated: 12 Dec 2012

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Spinocerebellar ataxia 3" returned 37 free, full-text research articles on human participants. First 3 results:

Cerebellar soluble mutant ataxin-3 level decreases during disease progression in Spinocerebellar Ataxia Type 3 mice.
 

Author(s): Huu Phuc Nguyen, Jeannette Hübener, Jonasz Jeremiasz Weber, Stephan Grueninger, Olaf Riess, Andreas Weiss

Journal:

 

Spinocerebellar Ataxia Type 3 (SCA3), also known as Machado-Joseph disease, is an autosomal dominantly inherited neurodegenerative disease caused by an expanded polyglutamine stretch in the ataxin-3 protein. A pathological hallmark of the disease is cerebellar and brainstem atrophy, ...

Last Updated: 29 Apr 2013

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Multiple saccadic abnormalities in spinocerebellar ataxia type 3 can be linked to a single deficiency in velocity feedback.
 

Author(s): Avi Caspi, Ari Z Zivotofsky, Carlos R Gordon

Journal:

 

The purpose of the current research is to understand if the different eye movement abnormalities in patients with the same neurologic disease are related to varied disease processes or, alternately, do different patients adopt different strategies to overcome a singular brain deficiency.

Last Updated: 29 Jan 2013

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Calpain-mediated ataxin-3 cleavage in the molecular pathogenesis of spinocerebellar ataxia type 3 (SCA3).
 

Author(s): Jeannette Hübener, Jonasz Jeremiasz Weber, Claudia Richter, Lisa Honold, Andreas Weiss, Fabronia Murad, Peter Breuer, Ullrich Wüllner, Peter Bellstedt, Francois Paquet-Durand, Jiro Takano, Takaomi C Saido, Olaf Riess, Huu Phuc Nguyen

Journal: Hum. Mol. Genet.. 2013 Feb;22(3):508-18.

 

Spinocerebellar ataxia type 3 (SCA3) is pathologically characterized by the formation of intranuclear aggregates which contain ataxin-3, the mutated protein in SCA3, in a specific subtype of neurons. It has been proposed that ataxin-3 is cleaved by proteolytic enzymes, in particular ...

Last Updated: 14 Jan 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Spinocerebellar ataxia 3" returned 3 free, full-text review articles on human participants. First 3 results:

Mouse models of spinocerebellar ataxia type 3 (Machado-Joseph disease).
 

Author(s): Veronica F Colomer Gould

Journal: Neurotherapeutics. 2012 Apr;9(2):285-96.

 

Machado-Joseph disease, also called spinocerebellar ataxia type 3 (MJD/SCA3), is a hereditary and neurodegenerative movement disorder caused by ataxin-3 with a pathological polyglutamine stretch (mutant ataxin-3). Seven transgenic mouse models expressing full-length human mutant ataxin-3 ...

Last Updated: 24 Apr 2012

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Machado-Joseph disease/spinocerebellar ataxia type 3.
 

Author(s): Henry Paulson

Journal: Handb Clin Neurol. 2012 ;103():437-49.

 

Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), may be the most common dominantly inherited ataxia in the world. Here I will review historical, clinical, neuropathological, genetic, and pathogenic features of MJD, and finish with a brief discussion ...

Last Updated: 10 Aug 2011

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Thalamic involvement in a spinocerebellar ataxia type 2 (SCA2) and a spinocerebellar ataxia type 3 (SCA3) patient, and its clinical relevance.
 

Author(s): U Rüb, D Del Turco, K Del Tredici, R A I de Vos, E R Brunt, G Reifenberger, C Seifried, C Schultz, G Auburger, H Braak

Journal: Brain. 2003 Oct;126(Pt 10):2257-72.

 

In spite of the considerable progress in clinical and molecular research, knowledge regarding brain damage in spinocerebellar ataxia type 2 (SCA2) and type 3 (SCA3) still is limited and the extent to which the thalamus is involved in both diseases is uncertain. Accordingly, we performed ...

Last Updated: 8 Sep 2003

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Clinical Trial Information This information is provided by ClinicalTrials.gov

The Influence of Deep TMS on Cerebellar Signs in Patients With Machado Joseph Disease
 

Status: Not yet recruiting

Condition Summary: Machado Joseph Disease (SCA3)

 

Last Updated: 16 Jan 2014

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Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias
 

Status: Recruiting

Condition Summary: Spinocerebellar Ataxia Type 1; Spinocerebellar Ataxia Type 2; Spinocerebellar Ataxia Type 3; Spinocerebellar Ataxia Type 6

 

Last Updated: 4 Mar 2014

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