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 317 free, full-text research articles on human participants. First 3 results:

Autophagy Promoted the Degradation of Mutant ATXN3 in Neurally Differentiated Spinocerebellar Ataxia-3 Human Induced Pluripotent Stem Cells.
 

Author(s): Zhanhui Ou, Min Luo, Xiaohua Niu, Yuchang Chen, Yingjun Xie, Wenyin He, Bing Song, Yexing Xian, Di Fan, Shuming OuYang, Xiaofang Sun

Journal: Biomed Res Int. 2016 ;2016():6701793.

 

Spinocerebellar ataxia-3 (SCA3) is the most common dominant inherited ataxia worldwide and is caused by an unstable CAG trinucleotide expansion mutation within the ATXN3 gene, resulting in an expanded polyglutamine tract within the ATXN3 protein. Many in vitro studies have examined ...

Last Updated: 16 Nov 2016

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A Novel Missense Mutation in the Spectrin Beta Nonerythrocytic 2 Gene Likely Associated with Spinocerebellar Ataxia Type 5.
 

Author(s): Li-Zhi Liu, Ming Ren, Mao Li, Yu-Ting Ren, Bo Sun, Xiao-Sun Sun, Si-Yu Chen, Si-Yuan Li, Xu-Sheng Huang

Journal: Chin. Med. J.. 2016 10;129(20):2516-2517.

 

Last Updated: 17 Oct 2016

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Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H266.
 

Author(s): Adele G Marthaler, Alisa Tubsuwan, Benjamin Schmid, Ulla B Poulsen, Alexander F Engelbrecht, Ulrike A Mau-Holzmann, Poul Hyttel, Troels T Nielsen, Jørgen E Nielsen, Bjørn Holst

Journal: Stem Cell Res. 2016 Jan;16(1):202-5.

 

Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease primarily affecting the cerebellum. Very little is known about the molecular mechanisms underlying the disease and, to date, no cure or treatment is available. We have successfully generated bona fide induced pluripotent ...

Last Updated: 27 Jun 2016

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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:

Parkinsonism in spinocerebellar ataxia.
 

Author(s): Hyeyoung Park, Han-Joon Kim, Beom S Jeon

Journal: Biomed Res Int. 2015 ;2015():125273.

 

Spinocerebellar ataxia (SCA) presents heterogeneous clinical phenotypes, and parkinsonism is reported in diverse SCA subtypes. Both levodopa responsive Parkinson disease (PD) like phenotype and atypical parkinsonism have been described especially in SCA2, SCA3, and SCA17 with geographic ...

Last Updated: 13 Apr 2015

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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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Beyond the glutamine expansion: influence of posttranslational modifications of ataxin-1 in the pathogenesis of spinocerebellar ataxia type 1.
 

Author(s): Hyoungseok Ju, Hiroshi Kokubu, Janghoo Lim

Journal: Mol. Neurobiol.. 2014 Dec;50(3):866-74.

 

Posttranslational modifications are crucial mechanisms that modulate various cellular signaling pathways, and their dysregulation is associated with many human diseases. Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited neurodegenerative disease characterized by progressive ...

Last Updated: 10 Nov 2014

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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 of Spinocerebellar Ataxia Type 7 (SCA7)
 

Status: Recruiting

Condition Summary: Spinocerebellar Ataxia

 

Last Updated: 22 Mar 2017

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

Status: Recruiting

Condition Summary: Spinocerebellar Ataxias

 

Last Updated: 6 Jun 2016

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Functional and Structural Imaging and Motor Control in Spinocerebellar Ataxia
 

Status: Recruiting

Condition Summary: Spinocerebellar Ataxia

 

Last Updated: 24 Feb 2017

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