Spinocerebellar ataxia 2

Common Name(s)

Spinocerebellar ataxia 2

Spinocerebellar ataxia 2 is a progressive disorder that causes uncoordinated movement (ataxia), slow eye movement, and sometimes dementia (memory loss). It is caused by a mutation in the ATXN2 gene. It usually affects people in adulthood, but can develop in childhood or adolescence. Each child of a person with spinocerebellar ataxia 2 has a 50% (1 in 2) chance of inheriting the condition.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinocerebellar ataxia 2" 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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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinocerebellar ataxia 2" 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

 
 
 
 
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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 2" returned 44 free, full-text research articles on human participants. First 3 results:

Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients.
 

Author(s): F Calì, V Chiavetta, A Ragalmuto, M Vinci, G Ruggeri, P Schinocca, V Romano

Journal:

 

We developed a new application of comparative multiplex dosage analysis (CMDA) for evaluation of the ataxin 2 gene. Expansions of the triplet CAG can cause spinocerebellar ataxia type 2 (SCA2), a neurodegenerative disease with an autosomal-dominant mode of inheritance. Molecular diagnosis ...

Last Updated: 10 May 2013

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The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis.
 

Author(s): Sarah C Goetz, Karel F Liem, Kathryn V Anderson

Journal: Cell. 2012 Nov;151(4):847-58.

 

The primary cilium has critical roles in human development and disease, but the mechanisms that regulate ciliogenesis are not understood. Here, we show that Tau tubulin kinase 2 (TTBK2) is a dedicated regulator of the initiation of ciliogenesis in vivo. We identified a null allele ...

Last Updated: 12 Nov 2012

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Selective positive modulator of calcium-activated potassium channels exerts beneficial effects in a mouse model of spinocerebellar ataxia type 2.
 

Author(s): Adebimpe W Kasumu, Charlotte Hougaard, Frederik Rode, Thomas A Jacobsen, Jean Marc Sabatier, Birgitte L Eriksen, Dorte Strøbæk, Xia Liang, Polina Egorova, Dasha Vorontsova, Palle Christophersen, Lars Christian B Rønn, Ilya Bezprozvanny

Journal: Chem. Biol.. 2012 Oct;19(10):1340-53.

 

Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disorder caused by a polyglutamine expansion within the Ataxin-2 (Atxn2) protein. Purkinje cells (PC) of the cerebellum fire irregularly and eventually die in SCA2. We show here that the type 2 small conductance calcium-activated ...

Last Updated: 29 Oct 2012

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

Deranged calcium signaling in Purkinje cells and pathogenesis in spinocerebellar ataxia 2 (SCA2) and other ataxias.
 

Author(s): Adebimpe Kasumu, Ilya Bezprozvanny

Journal: Cerebellum. 2012 Sep;11(3):630-9.

 

Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of more than 30 autosomal-dominant genetic and neurodegenerative disorders. SCAs are generally characterized by progressive ataxia and cerebellar atrophy. Although all SCA patients present with the phenotypic overlap ...

Last Updated: 6 Aug 2012

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Thalamic involvement in a spinocerebellar ataxia type 2 (SCA2) and a spinocerebellar ataxia type 3 (SCA3) patient, and its clinical relevance.
 

Author(s): U Rüb, D Del Turco, K Del Tredici, R A I de Vos, E R Brunt, G Reifenberger, C Seifried, C Schultz, G Auburger, H Braak

Journal: Brain. 2003 Oct;126(Pt 10):2257-72.

 

In spite of the considerable progress in clinical and molecular research, knowledge regarding brain damage in spinocerebellar ataxia type 2 (SCA2) and type 3 (SCA3) still is limited and the extent to which the thalamus is involved in both diseases is uncertain. Accordingly, we performed ...

Last Updated: 8 Sep 2003

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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

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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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EPI-743 in Friedreich's Ataxia Point Mutations
 

Status: Recruiting

Condition Summary: Friedreich's Ataxia Point Mutation

 

Last Updated: 23 Oct 2013

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