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.

Logo
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinocerebellar ataxia 7" 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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

[Type 7 spinocerebellar ataxia (SCA) dignosed by the appearance of the fundus].
 

Author(s): Zineb Jaja, Amina Laghmari

Journal:

 

Last Updated: 14 Jul 2014

Go To URL
RNA interference-based therapy for spinocerebellar ataxia type 7 retinal degeneration.
 

Author(s): Pavitra S Ramachandran, Sajag Bhattarai, Pratibha Singh, Ryan L Boudreau, Stewart Thompson, Albert R Laspada, Arlene V Drack, Beverly L Davidson

Journal:

 

Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant neurodegenerative disease characterized by loss of motor coordination and retinal degeneration with no current therapies in the clinic. The causative mutation is an expanded CAG repeat in the ataxin-7 gene whose mutant ...

Last Updated: 24 Apr 2014

Go To URL
Histone deacetylase-3 interacts with ataxin-7 and is altered in a spinocerebellar ataxia type 7 mouse model.
 

Author(s): Carlotta E Duncan, Mahru C An, Theodora Papanikolaou, Caitlin Rugani, Cathy Vitelli, Lisa M Ellerby

Journal:

 

Spinocerebellar ataxia type 7 (SCA7) is caused by a toxic polyglutamine (polyQ) expansion in the N-terminus of the protein ataxin-7. Ataxin-7 has a known function in the histone acetylase complex, Spt/Ada/Gcn5 acetylase (STAGA) chromatin-remodeling complex. We hypothesized that some ...

Last Updated: 16 Jan 2014

Go To URL

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

Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegeneration.
 

Author(s): Gwenn A Garden, Albert R La Spada

Journal: Cerebellum. 2008 ;7(2):138-49.

 

Spinocerebellar ataxia type 7 (SCA7) is unique among CAG/polyglutamine (polyQ) repeat diseases due to dramatic intergenerational instability in repeat length and an associated cone-rod dystrophy retinal degeneration phenotype. SCA7 is caused by a polyQ expansion in the protein ataxin-7. ...

Last Updated: 17 Sep 2008

Go To URL
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

Go To URL
 
 
Top

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

Go to URL