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

Audiological evaluation in spinocerebellar ataxia.
 

Author(s): Bianca Simone Zeigelboim, Hélio Afonso Ghizoni Teive, Rosane Sampaio Santos, Walter Oleschko Arruda, Ari Leon Jurkiewicz, Heidi Mengelberg, Denise França, Jair Mendes Marques

Journal: Codas. 2013 ;25(4):351-7.

 

To describe the audiological and electrophysiological results in patients with spinocerebellar ataxia (SCA).

Last Updated: 13 Jan 2014

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Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient.
 

Author(s): Hiroyuki Morino, Ryosuke Miyamoto, Shizuo Ohnishi, Hirofumi Maruyama, Hideshi Kawakami

Journal:

 

Spinocerebellar ataxias (SCAs) are heterogeneous diseases characterized by progressive cerebellar ataxia associated with dysarthria, oculomotor abnormalities, and mental impairment. To identify the causative gene, we performed exome sequencing on a Japanese patient clinically diagnosed ...

Last Updated: 13 Jan 2014

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Spinal cord atrophy in spinocerebellar ataxia type 1.
 

Author(s): José Luiz Pedroso, Orlando G P Barsottini

Journal: Arq Neuropsiquiatr. 2013 Dec;71(12):977.

 

Last Updated: 18 Dec 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" returned 14 free, full-text review articles on human participants. First 3 results:

Cell biology of spinocerebellar ataxia.
 

Author(s): Harry T Orr

Journal: J. Cell Biol.. 2012 Apr;197(2):167-77.

 

Ataxia is a neurological disorder characterized by loss of control of body movements. Spinocerebellar ataxia (SCA), previously known as autosomal dominant cerebellar ataxia, is a biologically robust group of close to 30 progressive neurodegenerative diseases. Six SCAs, including the ...

Last Updated: 17 Apr 2012

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Mouse models of spinocerebellar ataxia type 3 (Machado-Joseph disease).
 

Author(s): Veronica F Colomer Gould

Journal: Neurotherapeutics. 2012 Apr;9(2):285-96.

 

Machado-Joseph disease, also called spinocerebellar ataxia type 3 (MJD/SCA3), is a hereditary and neurodegenerative movement disorder caused by ataxin-3 with a pathological polyglutamine stretch (mutant ataxin-3). Seven transgenic mouse models expressing full-length human mutant ataxin-3 ...

Last Updated: 24 Apr 2012

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Machado-Joseph disease/spinocerebellar ataxia type 3.
 

Author(s): Henry Paulson

Journal: Handb Clin Neurol. 2012 ;103():437-49.

 

Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), may be the most common dominantly inherited ataxia in the world. Here I will review historical, clinical, neuropathological, genetic, and pathogenic features of MJD, and finish with a brief discussion ...

Last Updated: 10 Aug 2011

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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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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Transcranial Magnetic Stimulation in Spino-Cerebellar Ataxia
 

Status: Recruiting

Condition Summary: Spinocerebellar Ataxia

 

Last Updated: 28 May 2014

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Parkinsonism in Spinocerebellar Ataxia Type 6
 

Status: Recruiting

Condition Summary: Spinocerebellar Ataxia Type 6

 

Last Updated: 4 Sep 2013

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