Spinocerebellar ataxia 6

Common Name(s)

Spinocerebellar ataxia 6

Spinocerebellar ataxia type 6 (SCA6) is a neurological condition characterized by progressive problems with movement. Initial symptoms include problems with coordination and balance (ataxia). Other early signs and symptoms include speech difficulties (dysarthria), involuntary eye movements (nystagmus), and double vision. Over time, individuals with SCA6 may develop loss of coordination in their arms, tremors, and uncontrolled muscle tensing (dystonia). The signs and symptoms of SCA6 typically begin in a person's forties or fifties. Most people with this disorder require wheelchair assistance by the time they are in their sixties. Spinocerebellar ataxia type 6 is caused by mutations in the CACNA1A gene. This condition is inherited in an autosomal dominant pattern.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinocerebellar ataxia 6" 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

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 6" 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 6" returned 30 free, full-text research articles on human participants. First 3 results:

Overlap syndrome comprised of systemic sclerosis and systemic lupus erythematosus associated with spinocerebellar ataxia type 6 and MALT lymphoma.
 

Author(s): Daisuke Tsuruta, Ayaka Ohzono, Norito Ishii, Fumitake Ono, Takahiro Hamada, Teruki Dainichi, Chika Ohata, Minao Furumura, Kazuhito Noda, Takashi Hashimoto

Journal: Eur J Dermatol. ;23(1):117.

 

Last Updated: 12 Mar 2013

Go To URL
The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study.
 

Author(s): H Jacobi, P Bauer, P Giunti, R Labrum, M G Sweeney, P Charles, A Dürr, C Marelli, C Globas, C Linnemann, L Schöls, M Rakowicz, R Rola, E Zdzienicka, T Schmitz-Hübsch, R Fancellu, C Mariotti, C Tomasello, L Baliko, B Melegh, A Filla, C Rinaldi, B P van de Warrenburg, C C P Verstappen, S Szymanski, J Berciano, J Infante, D Timmann, S Boesch, S Hering, C Depondt, M Pandolfo, J-S Kang, S Ratzka, J Schulz, S Tezenas du Montcel, T Klockgether

Journal: Neurology. 2011 Sep;77(11):1035-41.

 

To obtain quantitative data on the progression of the most common spinocerebellar ataxias (SCAs) and identify factors that influence their progression, we initiated the EUROSCA natural history study, a multicentric longitudinal cohort study of 526 patients with SCA1, SCA2, SCA3, or ...

Last Updated: 13 Sep 2011

Go To URL
Splice isoform-specific suppression of the Cav2.1 variant underlying spinocerebellar ataxia type 6.
 

Author(s): Wei-Ling Tsou, Bing-Wen Soong, Henry L Paulson, Edgardo Rodríguez-Lebrón

Journal: Neurobiol. Dis.. 2011 Sep;43(3):533-42.

 

Spinocerebellar ataxia type 6 (SCA6) is an inherited neurodegenerative disease caused by a polyglutamine (polyQ) expansion in the Ca(V)2.1 voltage-gated calcium channel subunit (CACNA1A). There is currently no treatment for this debilitating disorder and thus a pressing need to develop ...

Last Updated: 18 Jul 2011

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

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Parkinsonism in Spinocerebellar Ataxia Type 6
 

Status: Recruiting

Condition Summary: Spinocerebellar Ataxia Type 6

 

Last Updated: 4 Sep 2013

Go to URL
Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias
 

Status: Recruiting

Condition Summary: Spinocerebellar Ataxia Type 1; Spinocerebellar Ataxia Type 2; Spinocerebellar Ataxia Type 3; Spinocerebellar Ataxia Type 6

 

Last Updated: 4 Mar 2014

Go to URL