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

Impact of disease duration on functional status of patients with spinocerebellar ataxia type 2.
 

Author(s): Thiago R Padilha Amarante, Sibele Y M Takeda, Hélio A G Teive, Marise Bueno Zonta

Journal: Arq Neuropsiquiatr. 2017 Nov;75(11):773-777.

 

To correlate disease duration in spinocerebellar ataxia type 2 (SCA2) with disease severity, balance and functionality.

Last Updated: 31 Dec 1969

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Progression of spinocerebellar ataxia type 2. What do we need to know?
 

Author(s): Henrique Ballalai Ferraz

Journal: Arq Neuropsiquiatr. 2017 11;75(11):765-766.

 

Last Updated: 31 Dec 1969

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Potassium channel dysfunction underlies Purkinje neuron spiking abnormalities in spinocerebellar ataxia type 2.
 

Author(s): James M Dell'Orco, Stefan M Pulst, Vikram G Shakkottai

Journal: Hum. Mol. Genet.. 2017 10;26(20):3935-3945.

 

Alterations in Purkinje neuron firing often accompany ataxia, but the molecular basis for these changes is poorly understood. In a mouse model of spinocerebellar ataxia type 2 (SCA2), a progressive reduction in Purkinje neuron firing frequency accompanies cell atrophy. We investigated ...

Last Updated: 31 Dec 1969

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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 1 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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 (ATRIL)
 

Status: Recruiting

Condition Summary: Spinocerebellar Ataxia Type 2

 

Last Updated: 10 Aug 2018

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Umbilical Cord Mesenchymal Stem Cells Therapy for Patients With Spinocerebellar Ataxia
 

Status: Not yet recruiting

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

 

Last Updated: 18 Dec 2017

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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: 21 Jun 2018

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