Spinocerebellar ataxia 23

Common Name(s)

Spinocerebellar ataxia 23

Spinocerebellar ataxia-23 is an adult-onset autosomal dominant neurodegenerative disorder characterized by slowly progressive gait and limb ataxia, with variable additional features, including peripheral neuropathy and dysarthria ({1:Bakalkin et al., 2010}). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 ({164400}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinocerebellar ataxia 23" 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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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinocerebellar ataxia 23" 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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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 23" returned 3 free, full-text research articles on human participants. First 3 results:

Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.
 

Author(s): Georgy Bakalkin, Hiroyuki Watanabe, Justyna Jezierska, Cloƫ Depoorter, Corien Verschuuren-Bemelmans, Igor Bazov, Konstantin A Artemenko, Tatjana Yakovleva, Dennis Dooijes, Bart P C Van de Warrenburg, Roman A Zubarev, Berry Kremer, Pamela E Knapp, Kurt F Hauser, Cisca Wijmenga, Fred Nyberg, Richard J Sinke, Dineke S Verbeek

Journal: Am. J. Hum. Genet.. 2010 Nov;87(5):593-603.

 

Spinocerebellar ataxias (SCAs) are dominantly inherited neurodegenerative disorders characterized by progressive cerebellar ataxia and dysarthria. We have identified missense mutations in prodynorphin (PDYN) that cause SCA23 in four Dutch families displaying progressive gait and limb ...

Last Updated: 12 Nov 2010

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Spinocerebellar ataxia type 23: a genetic update.
 

Author(s): Dineke S Verbeek

Journal: Cerebellum. 2009 Jun;8(2):104-7.

 

The spinocerebellar ataxia type 23 locus was identified in 2004 based on linkage analysis in a large, two-generation Dutch family. The age of onset ranged 43-56 years and the phenotype was characterized by a slowly progressive, isolated ataxia. Neuropathological examination revealed ...

Last Updated: 11 Jun 2009

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Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23.
 

Author(s): P Bomont, M Watanabe, R Gershoni-Barush, M Shizuka, M Tanaka, J Sugano, C Guiraud-Chaumeil, M Koenig

Journal: Eur. J. Hum. Genet.. 2000 Dec;8(12):986-90.

 

With the availability of a simple molecular test that distinguishes Friedreich ataxia, the most frequent form of inherited ataxia, from other recessive ataxias, it now becomes possible to unravel the genetic heterogeneity of the latter. We have now localised two genes causing autosomal ...

Last Updated: 22 Jan 2001

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

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.