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.

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

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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Early activation of microglia and astrocytes in mouse models of spinocerebellar ataxia type 1.
 

Author(s): M Cvetanovic, M Ingram, H Orr, P Opal

Journal: Neuroscience. 2015 Mar;289():289-99.

 

Spinocerebellar ataxia type 1 (SCA1) is an incurable, dominantly inherited neurodegenerative disease of the cerebellum caused by a polyglutamine-repeat expansion in the protein ataxin-1 (ATXN1). While analysis of human autopsy material indicates significant glial pathology in SCA1, ...

Last Updated: 27 Feb 2015

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Assessing recovery from neurodegeneration in spinocerebellar ataxia 1: Comparison of in vivo magnetic resonance spectroscopy with motor testing, gene expression and histology.
 

Author(s): Gülin Öz, Emily Kittelson, Döne Demirgöz, Orion Rainwater, Lynn E Eberly, Harry T Orr, H Brent Clark

Journal: Neurobiol. Dis.. 2015 Feb;74():158-66.

 

Suppression of transgene expression in a conditional transgenic mouse model of spinocerebellar ataxia 1 (SCA1) reverses the Purkinje cell pathology and motor dysfunction that are hallmarks of SCA1. We previously showed that cerebellar neurochemical levels measured by magnetic resonance ...

Last Updated: 9 Feb 2015

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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 5 free, full-text review articles on human participants. First 3 results:

Beyond the glutamine expansion: influence of posttranslational modifications of ataxin-1 in the pathogenesis of spinocerebellar ataxia type 1.
 

Author(s): Hyoungseok Ju, Hiroshi Kokubu, Janghoo Lim

Journal: Mol. Neurobiol.. 2014 Dec;50(3):866-74.

 

Posttranslational modifications are crucial mechanisms that modulate various cellular signaling pathways, and their dysregulation is associated with many human diseases. Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited neurodegenerative disease characterized by progressive ...

Last Updated: 10 Nov 2014

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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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Symptoms, Diagnosis, and Treatment

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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: 2 Dec 2015

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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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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: 12 Jan 2016

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