Spinocerebellar ataxia 7

Common Name(s)

Spinocerebellar ataxia 7

Spinocerebellar ataxia 7 (SCA7) is an inherited disease of the central nervous system that leads to impairment of specific nerve fibers carrying messages to and from the brain, resulting in degeneration of the cerebellum (the coordination center of the brain). SCA7 differs from most other forms of SCA in that visual problems, rather than poor coordination, are generally the earliest signs of the disease. Affected individuals have progressive changes in vision (which can result in blindness); symptoms of ataxia; slow eye movements; and mild changes in sensation or reflexes. Later symptoms include loss of motor control, unclear speech (dysarthria), and difficulty swallowing (dysphagia). Onset in early childhood or infancy has an especially rapid and aggressive course often associated with failure to thrive and regression of motor milestones. SCA7 is caused by mutations in the ATXN7 gene and is inherited in an autosomal dominant manner. Treatment is generally symptomatic and supportive.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinocerebellar ataxia 7" 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 7" 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 7" returned 26 free, full-text research articles on human participants. First 3 results:

Reelin is a target of polyglutamine expanded ataxin-7 in human spinocerebellar ataxia type 7 (SCA7) astrocytes.
 

Author(s): Shaun D McCullough, Xiaojiang Xu, Sharon Y R Dent, Stefan Bekiranov, Robert G Roeder, Patrick A Grant

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2012 Dec;109(52):21319-24.

 

Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant neurodegenerative disorder that results from polyglutamine expansion of the ataxin-7 (ATXN7) protein. Remarkably, although mutant ATXN7 is expressed throughout the body, pathology is restricted primarily to the cerebellum ...

Last Updated: 27 Dec 2012

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Spinocerebellar ataxia type 7: report of a new Italian family.
 

Author(s): Domenico Italiano, Patrizia Tarantino, Elvira Valeria De Marco, Rocco Salvatore CalabrĂ², Placido Bramanti, Aldo Quattrone, Grazia Annesi

Journal: Intern. Med.. 2012 ;51(20):2953-5.

 

Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disorder characterized by degeneration of the cerebellum, brainstem and retina. We herein describe a family from southern Italy whose proband was a 49-year-old man presenting with ataxia with progressive gait disturbances, ...

Last Updated: 15 Oct 2012

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Spinocerebellar ataxia type 7: clinical course, phenotype-genotype correlations, and neuropathology.
 

Author(s): Laura C Horton, Matthew P Frosch, Mark G Vangel, Carol Weigel-DiFranco, Eliot L Berson, Jeremy D Schmahmann

Journal: Cerebellum. 2013 Apr;12(2):176-93.

 

Spinocerebellar ataxia type 7 is a neurodegenerative polyglutamine disease characterized by ataxia and retinal degeneration. The longitudinal course is unknown, and relationships between repeat expansion, clinical manifestations, and neuropathology remain uncertain. We followed 16 ...

Last Updated: 4 Mar 2013

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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 7" returned 1 free, full-text review articles on human participants. First 3 results:

Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy.
 

Author(s): A Michalik, J-J Martin, C Van Broeckhoven

Journal: Eur. J. Hum. Genet.. 2004 Jan;12(1):2-15.

 

Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant, late-onset, slowly progressive disorder, primarily characterized by gradual loss of motor coordination, resulting from dysfunction and degeneration of the cerebellum and its connecting pathways. The disease is caused by ...

Last Updated: 5 Jan 2004

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Immunogenicity of Pneumococcal Vaccines in Ataxia-telangiectasia Patients
 

Status: Not yet recruiting

Condition Summary: Ataxia Telangiectasia

 

Last Updated: 15 Mar 2010

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Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias
 

Status: Recruiting

Condition Summary: Congenital Cerebellar Ataxias; Early-onset Cerebellar Ataxias

 

Last Updated: 26 Feb 2014

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