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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General Support Organizations

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How do you compare to others with this condition?

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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

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

Progression of microstructural damage in spinocerebellar ataxia type 2: a longitudinal DTI study.
 

Author(s): M Mascalchi, N Toschi, M Giannelli, A Ginestroni, R Della Nave, E Nicolai, A Bianchi, C Tessa, E Salvatore, M Aiello, A Soricelli, S Diciotti

Journal: AJNR Am J Neuroradiol. 2015 Jun;36(6):1096-101.

 

The ability of DTI to track the progression of microstructural damage in patients with inherited ataxias has not been explored so far. We performed a longitudinal DTI study in patients with spinocerebellar ataxia type 2.

Last Updated: 13 Jun 2015

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In vivo neurometabolic profiling in patients with spinocerebellar ataxia types 1, 2, 3, and 7.
 

Author(s): Isaac M Adanyeguh, Pierre-Gilles Henry, Tra M Nguyen, Daisy Rinaldi, Celine Jauffret, Romain Valabregue, Uzay E Emir, Dinesh K Deelchand, Alexis Brice, Lynn E Eberly, Gülin Öz, Alexandra Durr, Fanny Mochel

Journal: Mov. Disord.. 2015 Apr;30(5):662-70.

 

Spinocerebellar ataxias (SCAs) belong to polyglutamine repeat disorders and are characterized by a predominant atrophy of the cerebellum and the pons. Proton magnetic resonance spectroscopy ((1) H MRS) using an optimized semiadiabatic localization by adiabatic selective refocusing ...

Last Updated: 13 Apr 2015

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Amyotrophic lateral sclerosis risk for spinocerebellar ataxia type 2 ATXN2 CAG repeat alleles: a meta-analysis.
 

Author(s): Annalese G Neuenschwander, Khanh K Thai, Karla P Figueroa, Stefan M Pulst

Journal: JAMA Neurol. 2014 Dec;71(12):1529-34.

 

Repeats of CAG in the ataxin 2 gene (ATXN2) in the long-normal range (sometimes referred to as intermediate) have been identified as modifiers of amyotrophic lateral sclerosis (ALS) risk. Prior studies have used thresholding considering various cutoffs for ATXN2 repeat length.

Last Updated: 9 Dec 2014

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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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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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: 17 Jun 2016

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Pancreatic Cancer Screening of High-Risk Individuals in Arkansas
 

Status: Recruiting

Condition Summary: Pancreatic Neoplasms; Peutz-Jegher's Syndrome; BRCA1 Gene Mutation; BRCA2 Gene Mutation; Ataxia Telangiectasia; Familial Atypical Mole-Malignant Melanoma Syndrome; Colorectal Neoplasms, Hereditary Nonpolyposis; Hereditary Pancreatitis

 

Last Updated: 20 Jul 2016

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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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