Spinocerebellar Ataxia

Common Name(s)

Spinocerebellar Ataxia

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinocerebellar Ataxia" 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" 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" returned 358 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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β-III-spectrin spinocerebellar ataxia type 5 mutation reveals a dominant cytoskeletal mechanism that underlies dendritic arborization.
 

Author(s): Adam W Avery, David D Thomas, Thomas S Hays

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2017 10;114(44):E9376-E9385.

 

A spinocerebellar ataxia type 5 (SCA5) L253P mutation in the actin-binding domain (ABD) of β-III-spectrin causes high-affinity actin binding and decreased thermal stability in vitro. Here we show in mammalian cells, at physiological temperature, that the mutant ABD retains high-affinity ...

Last Updated: 31 Dec 1969

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Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias.
 

Author(s): Shi-Rui Gan, Jie Wang, Karla P Figueroa, Stefan M Pulst, Darya Tomishon, Danielle Lee, Susan Perlman, George Wilmot, Christopher M Gomez, Jeremy Schmahmann, Henry Paulson, Vikram G Shakkottai, Sarah H Ying, Theresa Zesiewicz, Khalaf Bushara, Michael D Geschwind, Guangbin Xia, S H Subramony, Tetsuo Ashizawa, Sheng-Han Kuo

Journal:

 

Postural tremor can sometimes occur in spinocerebellar ataxias (SCAs). However, the prevalence and clinical characteristics of postural tremor in SCAs are poorly understood, and whether SCA patients with postural tremor have different ataxia progression is not known.

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" returned 23 free, full-text review articles on human participants. First 3 results:

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
 

Author(s): Jessica L Zambonin, Allison Bellomo, Hilla Ben-Pazi, David B Everman, Lee M Frazer, Michael T Geraghty, Amy D Harper, Julie R Jones, Benjamin Kamien, Kristin Kernohan, Mary Kay Koenig, Matthew Lines, Elizabeth Emma Palmer, Randal Richardson, Reeval Segel, Mark Tarnopolsky, Jason R Vanstone, Melissa Gibbons, Abigail Collins, Brent L Fogel, , Tracy Dudding-Byth, Kym M Boycott

Journal:

 

Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characterized by infantile-onset hypotonia, gross motor delay and cognitive impairment. Affected individuals exhibit cerebellar dysfunction and often have cerebellar atrophy on neuroimaging. ...

Last Updated: 31 Dec 1969

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Spinocerebellar ataxia 15: A phenotypic review and expansion.
 

Author(s): Philip W Tipton, Kimberly Guthrie, Audrey Strongosky, Ronald Reimer, Zbigniew K Wszolek

Journal: Neurol. Neurochir. Pol.. ;51(1):86-91.

 

Spinocerebellar ataxia 15 (SCA15) is a clinically heterogeneous movement disorder characterized by the adult onset of slowly progressive cerebellar ataxia. ITPR1 is the SCA15 causative gene. However, despite numerous reports of genetically-confirmed SCA15, phenotypic uncertainty persists. ...

Last Updated: 31 Dec 1969

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Itajaí, Santa Catarina - Azorean ancestry and spinocerebellar ataxia type 3.
 

Author(s): Hélio A G Teive, Adriana Moro, Walter O Arruda, Salmo Raskin, Gladys M G Teive, Norberto Dalabrida, Renato P Munhoz

Journal: Arq Neuropsiquiatr. 2016 Oct;74(10):858-860.

 

The authors present a historical review of spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the most common form of spinocerebellar ataxia in Brazil, and consider the high frequency of cases in families from Itajaí, a city on the coast of the state of Santa Catarina ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Natural History of Spinocerebellar Ataxia Type 7 (SCA7)
 

Status: Recruiting

Condition Summary: Spinocerebellar Ataxia

 

Last Updated: 27 Mar 2018

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Hong Kong Spinocerebellar Ataxias Registry
 

Status: Recruiting

Condition Summary: Spinocerebellar Ataxia

 

Last Updated: 7 Nov 2017

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

Status: Not yet recruiting

Condition Summary: Spinocerebellar Ataxia Type 2

 

Last Updated: 17 Nov 2017

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