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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How do you compare to others with this condition?

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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

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" returned 284 free, full-text research articles on human participants. First 3 results:

Diffusion tensor imaging of spinocerebellar ataxia type 12.
 

Author(s): Haitao Li, Jingjing Ma, Xiaoning Zhang

Journal:

 

Spinocerebellar ataxias (SCAs) are autosomal-dominant neurodegenerative diseases that are clinically and genetically heterogeneous. SCAs are characterized by a range of neurological symptoms. SCA12 is an autosomal-dominant (AD) ataxia caused by a CAG repeat expansion mutation in a ...

Last Updated: 2 Oct 2014

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Spinocerebellar ataxia type 3: subphenotypes in a cohort of Brazilian patients.
 

Author(s): Adriana Moro, Renato P Munhoz, Walter O Arruda, Salmo Raskin, Mariana Moscovich, Hélio A G Teive

Journal: Arq Neuropsiquiatr. 2014 Sep;72(9):659-62.

 

Spinocerebellar ataxia type 3 (SCA3) involves cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems with strong phenotypic heterogeneity, that lead us to classify the disorder into different clinical subtypes according to the predominantly affected motor systems.

Last Updated: 25 Sep 2014

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ELOVL5 mutations cause spinocerebellar ataxia 38.
 

Author(s): Eleonora Di Gregorio, Barbara Borroni, Elisa Giorgio, Daniela Lacerenza, Marta Ferrero, Nicola Lo Buono, Neftj Ragusa, Cecilia Mancini, Marion Gaussen, Alessandro Calcia, Nico Mitro, Eriola Hoxha, Isabella Mura, Domenico A Coviello, Young-Ah Moon, Christelle Tesson, Giovanna Vaula, Philippe Couarch, Laura Orsi, Eleonora Duregon, Mauro Giulio Papotti, Jean-François Deleuze, Jean Imbert, Chiara Costanzi, Alessandro Padovani, Paola Giunti, Marcel Maillet-Vioud, Alexandra Durr, Alexis Brice, Filippo Tempia, Ada Funaro, Loredana Boccone, Donatella Caruso, Giovanni Stevanin, Alfredo Brusco

Journal: Am. J. Hum. Genet.. 2014 Aug;95(2):209-17.

 

Spinocerebellar ataxias (SCAs) are a heterogeneous group of autosomal-dominant neurodegenerative disorders involving the cerebellum and 23 different genes. We mapped SCA38 to a 56 Mb region on chromosome 6p in a SCA-affected Italian family by whole-genome linkage analysis. Targeted ...

Last Updated: 9 Aug 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 17 free, full-text review articles on human participants. First 3 results:

Motor training in degenerative spinocerebellar disease: ataxia-specific improvements by intensive physiotherapy and exergames.
 

Author(s): Matthis Synofzik, Winfried Ilg

Journal: Biomed Res Int. 2014 ;2014():583507.

 

The cerebellum is essentially involved in movement control and plays a critical role in motor learning. It has remained controversial whether patients with degenerative cerebellar disease benefit from high-intensity coordinative training. Moreover, it remains unclear by which training ...

Last Updated: 30 May 2014

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Ataxin-3 protein and RNA toxicity in spinocerebellar ataxia type 3: current insights and emerging therapeutic strategies.
 

Author(s): Melvin M Evers, Lodewijk J A Toonen, Willeke M C van Roon-Mom

Journal: Mol. Neurobiol.. 2014 Jun;49(3):1513-31.

 

Ataxin-3 is a ubiquitously expressed deubiqutinating enzyme with important functions in the proteasomal protein degradation pathway and regulation of transcription. The C-terminus of the ataxin-3 protein contains a polyglutamine (PolyQ) region that, when mutationally expanded to over ...

Last Updated: 7 May 2014

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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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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: 30 Apr 2015

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Transcranial Magnetic Stimulation in Spino-Cerebellar Ataxia
 

Status: Recruiting

Condition Summary: Spinocerebellar Ataxia

 

Last Updated: 26 Jan 2015

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An Open-label Trial of Intravenous Immune Globulin (IVIG)in Treating Spinocerebellar Ataxias
 

Status: Not yet recruiting

Condition Summary: Spinocerebellar Ataxias

 

Last Updated: 7 Nov 2014

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