Spinocerebellar ataxia 1

Common Name(s)

Spinocerebellar ataxia 1

The autosomal dominant cerebellar degenerative disorders are generally referred to as 'spinocerebellar ataxias,' (SCAs) even though 'spinocerebellar' is a hybrid term, referring to both clinical signs and neuroanatomical regions ({54:Margolis, 2003)}. Neuropathologists have defined SCAs as cerebellar ataxias with variable involvement of the brainstem and spinal cord, and the clinical features of the disorders are caused by degeneration of the cerebellum and its afferent and efferent connections, which involve the brainstem and spinal cord ({86:Schols et al., 2004}; {98:Taroni and DiDonato, 2004}). Historically, {32:Harding (1982)} proposed a clinical classification for autosomal dominant cerebellar ataxias (ADCAs). ADCA I was characterized by cerebellar ataxia in combination with various associated neurologic features, such as ophthalmoplegia, pyramidal and extrapyramidal signs, peripheral neuropathy, and dementia, among others. ADCA II was characterized by the cerebellar ataxia, associated neurologic features, and the additional findings of macular and retinal degeneration. ADCA III was a pure form of late-onset cerebellar ataxia without additional features. SCA1, SCA2 ({183090}), and SCA3, or Machado-Joseph disease ({109150}), are considered to be forms of ADCA I. These 3 disorders are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively. SCA7 ({607640}), caused by a CAG repeat expansion in the ATXN7 gene ({607640}) on chromosome 3p13-p12, is a form of ADCA II. SCA5 ({600224}), SCA31 ({117210}), SCA6 ({183086}), and SCA11 ({600432}) are associated with phenotypes most suggestive of ADCA III. However, {83:Schelhaas et al. (2000)} noted that there is significant phenotypic overlap between different forms of SCA as well as significant phenotypic variability within each subtype. Classic reviews of olivopontocerebellar atrophies and of inherited ataxias in general include those of {44:Konigsmark and Weiner (1970)}, who identified 5 types of olivopontocerebellar atrophy, {5:Berciano (1982)}, {31:Harding (1993)}, {83:Schelhaas et al. (2000)}, and {54:Margolis (2003)}.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinocerebellar ataxia 1" 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.

http://www.ataxia.org

Last Updated: 12 Dec 2012

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinocerebellar ataxia 1" 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.

http://www.ataxia.org

Last Updated: 12 Dec 2012

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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 1" returned 36 free, full-text research articles on human participants. First 3 results:

Polyglutamine disease toxicity is regulated by Nemo-like kinase in spinocerebellar ataxia type 1.
 

Author(s): Hyoungseok Ju, Hiroshi Kokubu, Tiffany W Todd, Juliette J Kahle, Soeun Kim, Ronald Richman, Karthik Chirala, Harry T Orr, Huda Y Zoghbi, Janghoo Lim

Journal: J. Neurosci.. 2013 May;33(22):9328-36.

 

Polyglutamine diseases are dominantly inherited neurodegenerative diseases caused by an expansion of a CAG trinucleotide repeat encoding a glutamine tract in the respective disease-causing proteins. Extensive studies have been performed to unravel disease pathogenesis and to develop ...

Last Updated: 30 May 2013

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LANP mediates neuritic pathology in Spinocerebellar ataxia type 1.
 

Author(s): Marija Cvetanovic, Rupinder K Kular, Puneet Opal

Journal: Neurobiol. Dis.. 2012 Dec;48(3):526-32.

 

Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disease that results from a pathogenic glutamine-repeat expansion in the protein ataxin-1 (ATXN1). Although the functions of ATXN1 are still largely unknown, there is evidence to suggest that ATXN1 plays ...

Last Updated: 28 Sep 2012

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Vascular endothelial growth factor ameliorates the ataxic phenotype in a mouse model of spinocerebellar ataxia type 1.
 

Author(s): Marija Cvetanovic, Jay M Patel, Hugo H Marti, Ameet R Kini, Puneet Opal

Journal:

 

Spinocerebellar ataxia type 1 (SCA1) is an adult-onset, dominantly inherited neurodegenerative disease caused by expansion of a glutamine repeat tract in ataxin-1 (ATXN1). Although the precise function of ATXN1 remains elusive, it seems to be involved in transcriptional repression. ...

Last Updated: 8 Nov 2011

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

Molecular pathogenesis of spinocerebellar ataxia type 1 disease.
 

Author(s): Seongman Kang, Sunghoi Hong

Journal: Mol. Cells. 2009 Jun;27(6):621-7.

 

Spinocerebellar ataxia type 1 (SCA1) is an autosomal-dominant neurodegenerative disorder characterized by ataxia and progressive motor deterioration. SCA1 is associated with an elongated polyglutamine tract in ataxin-1, the SCA1 gene product. As summarized in this review, recent studies ...

Last Updated: 2 Jul 2009

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Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1.
 

Author(s): Huda Y Zoghbi, Harry T Orr

Journal: J. Biol. Chem.. 2009 Mar;284(12):7425-9.

 

Spinocerebellar ataxia type 1 (SCA1) is one of nine inherited neurodegenerative diseases caused by the expansion of a CAG trinucleotide repeat encoding a polyglutamine tract. SCA1 patients lose motor coordination and develop slurred speech, spasticity, and cognitive impairments. Difficulty ...

Last Updated: 16 Mar 2009

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Progress in pathogenesis studies of spinocerebellar ataxia type 1.
 

Author(s): C J Cummings, H T Orr, H Y Zoghbi

Journal: Philos. Trans. R. Soc. Lond., B, Biol. Sci.. 1999 Jun;354(1386):1079-81.

 

Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited disorder characterized by progressive loss of coordination, motor impairment and the degeneration of cerebellar Purkinje cells, spinocerebellar tracts and brainstem nuclei. Many dominantly inherited neurodegenerative diseases ...

Last Updated: 26 Aug 1999

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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: 4 Mar 2014

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Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT)
 

Status: Recruiting

Condition Summary: Ataxia Telangiectasia; Growth Failure

 

Last Updated: 2 Jul 2010

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Safety and Pharmacology Study of VP 20629 in Adults With Friedreich's Ataxia
 

Status: Recruiting

Condition Summary: Friedreich's Ataxia

 

Last Updated: 19 Mar 2014

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