Spinocerebellar Ataxia

Common Name(s)

Spinocerebellar Ataxia

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinocerebellar Ataxia" 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.

Last Updated: 12 Dec 2012

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinocerebellar Ataxia" 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

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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" returned 275 free, full-text research articles on human participants. First 3 results:

Mutant β-III spectrin causes mGluR1α mislocalization and functional deficits in a mouse model of spinocerebellar ataxia type 5.
 

Author(s): Karen R Armbrust, Xinming Wang, Tyisha J Hathorn, Samuel W Cramer, Gang Chen, Tao Zu, Takashi Kangas, Anastasia N Zink, Gülin Öz, Timothy J Ebner, Laura P W Ranum

Journal: J. Neurosci.. 2014 Jul;34(30):9891-904.

 

Spinocerebellar ataxia type 5 (SCA5), a dominant neurodegenerative disease characterized by profound Purkinje cell loss, is caused by mutations in SPTBN2, a gene that encodes β-III spectrin. SCA5 is the first neurodegenerative disorder reported to be caused by mutations in a cytoskeletal ...

Last Updated: 24 Jul 2014

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RNA interference-based therapy for spinocerebellar ataxia type 7 retinal degeneration.
 

Author(s): Pavitra S Ramachandran, Sajag Bhattarai, Pratibha Singh, Ryan L Boudreau, Stewart Thompson, Albert R Laspada, Arlene V Drack, Beverly L Davidson

Journal:

 

Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant neurodegenerative disease characterized by loss of motor coordination and retinal degeneration with no current therapies in the clinic. The causative mutation is an expanded CAG repeat in the ataxin-7 gene whose mutant ...

Last Updated: 24 Apr 2014

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Progression of brain atrophy in spinocerebellar ataxia type 2: a longitudinal tensor-based morphometry study.
 

Author(s): Mario Mascalchi, Stefano Diciotti, Marco Giannelli, Andrea Ginestroni, Andrea Soricelli, Emanuele Nicolai, Marco Aiello, Carlo Tessa, Lucia Galli, Maria Teresa Dotti, Silvia Piacentini, Elena Salvatore, Nicola Toschi

Journal:

 

Spinocerebellar ataxia type 2 (SCA2) is the second most frequent autosomal dominant inherited ataxia worldwide. We investigated the capability of magnetic resonance imaging (MRI) to track in vivo progression of brain atrophy in SCA2 by examining twice 10 SCA2 patients (mean interval ...

Last Updated: 3 Mar 2014

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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" returned 15 free, full-text review articles on human participants. First 3 results:

Clinical neurogenetics: autosomal dominant spinocerebellar ataxia.
 

Author(s): Vikram G Shakkottai, Brent L Fogel

Journal: Neurol Clin. 2013 Nov;31(4):987-1007.

 

The autosomal dominant spinocerebellar ataxias are a diverse and clinically heterogeneous group of disorders characterized by degeneration and dysfunction of the cerebellum and its associated pathways. Clinical and diagnostic evaluation can be challenging because of phenotypic overlap ...

Last Updated: 1 Nov 2013

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Cell biology of spinocerebellar ataxia.
 

Author(s): Harry T Orr

Journal: J. Cell Biol.. 2012 Apr;197(2):167-77.

 

Ataxia is a neurological disorder characterized by loss of control of body movements. Spinocerebellar ataxia (SCA), previously known as autosomal dominant cerebellar ataxia, is a biologically robust group of close to 30 progressive neurodegenerative diseases. Six SCAs, including the ...

Last Updated: 17 Apr 2012

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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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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: 8 Jan 2015

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Transcranial Magnetic Stimulation in Spino-Cerebellar Ataxia
 

Status: Recruiting

Condition Summary: Spinocerebellar Ataxia

 

Last Updated: 28 May 2014

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Parkinsonism in Spinocerebellar Ataxia Type 6
 

Status: Recruiting

Condition Summary: Spinocerebellar Ataxia Type 6

 

Last Updated: 4 Sep 2013

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