Spinocerebellar Ataxia Type 8

Common Name(s)

Spinocerebellar Ataxia Type 8, SCA8

Spinocerebellar ataxia type 8 (SCA8) is an inherited neurodegenerative condition characterized by slowly progressive ataxia (problems with movement, balance, and coordination). This condition typically occurs in adulthood and usually progresses over decades. Common initial symptoms include dysarthria, slow speech, and trouble walking. Some affected individuals experience nystagmus and other abnormal eye movements. Life span is typically not shortened. This condition is inherited in an autosomal dominant manner, although not all individuals with abnormalities in the disease-causing gene will develop the disease (called reduced penetrance).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinocerebellar Ataxia Type 8" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 Type 8" returned 5 free, full-text research articles on human participants. First 3 results:

Oromandibular and lingual dystonia associated with spinocerebellar ataxia type 8.
 

Author(s): Mwiza Ushe, Joel S Perlmutter

Journal: Mov. Disord.. 2012 Dec;27(14):1741-2.

 

Last Updated: 3 Jan 2013

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RNA gain-of-function in spinocerebellar ataxia type 8.
 

Author(s): Randy S Daughters, Daniel L Tuttle, Wangcai Gao, Yoshio Ikeda, Melinda L Moseley, Timothy J Ebner, Maurice S Swanson, Laura P W Ranum

Journal: PLoS Genet.. 2009 Aug;5(8):e1000600.

 

Microsatellite expansions cause a number of dominantly-inherited neurological diseases. Expansions in coding-regions cause protein gain-of-function effects, while non-coding expansions produce toxic RNAs that alter RNA splicing activities of MBNL and CELF proteins. Bi-directional ...

Last Updated: 14 Aug 2009

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Spinocerebellar ataxia type 8 larger triplet expansion alters histone modification and induces RNA foci.
 

Author(s): I-Cheng Chen, Hsuan-Yuan Lin, Ghin-Chueh Lee, Shih-Huan Kao, Chiung-Mei Chen, Yih-Ru Wu, Hsiu-Mei Hsieh-Li, Ming-Tsan Su, Guey-Jen Lee-Chen

Journal:

 

Spinocerebellar ataxia type 8 (SCA8) involves the expression of an expanded CTG/CAG combined repeats (CR) from opposite strands producing CUG expansion transcripts (ataxin 8 opposite strand, ATXN8OS) and a polyglutamine expansion protein (ataxin 8, ATXN8). The pathogenesis of SCA8 ...

Last Updated: 25 Feb 2009

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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 Type 8" returned 2 free, full-text review articles on human participants. First 3 results:

Molecular genetics of spinocerebellar ataxia type 8 (SCA8).
 

Author(s): Mousumi Mutsuddi, Ilaria Rebay

Journal: RNA Biol. 2005 Apr;2(2):49-52.

 

Spinocerebellar ataxias (SCAs) belong to a group of autosomal dominant, late-onset neurodegenerative disorders characterized by slowly progressive ataxia that eventually leads to severe gait, speech, coordination and sensory loss. The majority of these diseases result from expanded ...

Last Updated: 29 Nov 2006

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Spinocerebellar ataxia type 8 in Scotland: genetic and clinical features in seven unrelated cases and a review of published reports.
 

Author(s): A Zeman, J Stone, M Porteous, E Burns, L Barron, J Warner

Journal: J. Neurol. Neurosurg. Psychiatr.. 2004 Mar;75(3):459-65.

 

To establish whether the DNA expansion linked to spinocerebellar ataxia type 8 (SCA 8) is associated with ataxia in Scotland; to clarify the range of associated clinical phenotypes; and to compare the findings with previous reports.

Last Updated: 17 Feb 2004

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.