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

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

Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions.
 

Author(s): Ivette Landrian, Karen N McFarland, Jilin Liu, Connie J Mulligan, Astrid Rasmussen, Tetsuo Ashizawa

Journal:

 

Spinocerebellar ataxia type 10 (SCA10), an autosomal dominant cerebellar ataxia disorder, is caused by a non-coding ATTCT microsatellite repeat expansion in the ataxin 10 gene. In a subset of SCA10 families, the 5'-end of the repeat expansion contains a complex sequence of penta- ...

Last Updated: 19 Apr 2017

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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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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 18 free, full-text review articles on human participants. First 3 results:

Gene suppression strategies for dominantly inherited neurodegenerative diseases: lessons from Huntington's disease and spinocerebellar ataxia.
 

Author(s): Megan S Keiser, Holly B Kordasiewicz, Jodi L McBride

Journal: Hum. Mol. Genet.. 2016 Apr;25(R1):R53-64.

 

RNA-targeting approaches are emerging as viable therapeutics that offer an alternative method to modulate traditionally 'undrugable' targets. In the case of dominantly inherited neurodegenerative diseases, gene suppression strategies can target the underlying cause of these intractable ...

Last Updated: 22 Mar 2016

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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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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: 21 Apr 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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