Spinocerebellar ataxia 17

Common Name(s)

Spinocerebellar ataxia 17

SCA17 is an autosomal dominant neurologic disorder characterized by ataxia, pyramidal and extrapyramidal signs, cognitive impairments, psychosis, and seizures. Its clinical phenotype and inheritance pattern are similar to Huntington disease (HD; {143100}). Individuals with normal TBP alleles have between 25 and 44 repeats, whereas SCA17 patients have between 47 and 63 repeats. Reduced penetrance is seen with 45 to 46 repeats (summary by {4:Gao et al. (2008)}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinocerebellar ataxia 17" 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 17" 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 17" returned 8 free, full-text research articles on human participants. First 3 results:

A novel transgenic rat model for spinocerebellar ataxia type 17 recapitulates neuropathological changes and supplies in vivo imaging biomarkers.
 

Author(s): Alexandra Kelp, Arnulf H Koeppen, Elisabeth Petrasch-Parwez, Carsten Calaminus, Claudia Bauer, Esteban Portal, Libo Yu-Taeger, Bernd Pichler, Peter Bauer, Olaf Riess, Huu Phuc Nguyen

Journal: J. Neurosci.. 2013 May;33(21):9068-81.

 

Spinocerebellar ataxia 17 (SCA17) is an autosomal-dominant, late-onset neurodegenerative disorder caused by an expanded polyglutamine (polyQ) repeat in the TATA-box-binding protein (TBP). To further investigate this devastating disease, we sought to create a first transgenic rat model ...

Last Updated: 23 May 2013

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PET and MRI reveal early evidence of neurodegeneration in spinocerebellar ataxia type 17.
 

Author(s): Kathrin Brockmann, Matthias Reimold, Christoph Globas, Till Karsten Hauser, Uwe Walter, Hans-Jürgen Machulla, Arndt Rolfs, Ludger Schöls

Journal: J. Nucl. Med.. 2012 Jul;53(7):1074-80.

 

Spinocerebellar ataxia type 17 (SCA17) is a rare autosomal dominantly inherited neurodegenerative disorder presenting with a variable phenotype including ataxia, dystonia, chorea, and parkinsonism, as well as cognitive impairment. We evaluated morphologic and functional imaging characteristics ...

Last Updated: 3 Jul 2012

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CAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM study.
 

Author(s): Kathrin Reetz, Alexandra Kleiman, Christine Klein, Rebekka Lencer, Christine Zuehlke, Kathrin Brockmann, Arndt Rolfs, Ferdinand Binkofski

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Abnormal repeat length has been associated with an earlier age of onset and more severe disease progression in the rare neurodegenerative disorder spinocerebellar ataxia 17 (SCA17).

Last Updated: 11 Feb 2011

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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 17" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.