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.

Last Updated: 12 Dec 2012

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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

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

Amyotrophic lateral sclerosis and spinocerebellar ataxia type 2 in a family with full CAG repeat expansions of ATXN2.
 

Author(s): Sirinan Tazen, Karla Figueroa, Justin Y Kwan, Jill Goldman, Ann Hunt, Jacinda Sampson, Laurie Gutmann, Stefan M Pulst, Hiroshi Mitsumoto, Sheng-Han Kuo

Journal: JAMA Neurol. 2013 Oct;70(10):1302-4.

 

A family with coexistence of spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis (ALS) is described.

Last Updated: 3 Feb 2014

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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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Generation of human-induced pluripotent stem cells to model spinocerebellar ataxia type 2 in vitro.
 

Author(s): Guangbin Xia, Katherine Santostefano, Takashi Hamazaki, Jilin Liu, S H Subramony, Naohiro Terada, Tetsuo Ashizawa

Journal: J. Mol. Neurosci.. 2013 Oct;51(2):237-48.

 

Spinocerebellar ataxia type 2 (SCA2) is caused by triple nucleotide repeat (CAG) expansion in the coding region of the ATAXN2 gene on chromosome 12, which produces an elongated, toxic polyglutamine tract, leading to Purkinje cell loss. There is currently no effective therapy. One ...

Last Updated: 23 Sep 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 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: 20 May 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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RTA 408 Capsules in Patients With Friedreich's Ataxia - MOXIe
 

Status: Not yet recruiting

Condition Summary: Friedreich Ataxia

 

Last Updated: 18 Nov 2014

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