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 ({55: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 ({87:Schols et al., 2004}; {99:Taroni and DiDonato, 2004}). Historically, {30: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, {84: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 {45:Konigsmark and Weiner (1970)}, who identified 5 types of olivopontocerebellar atrophy, {5:Berciano (1982)}, {32:Harding (1993)}, {84:Schelhaas et al. (2000)}, and {55: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 52 free, full-text research articles on human participants. First 3 results:

Fusion of Human Fetal Mesenchymal Stem Cells with "Degenerating" Cerebellar Neurons in Spinocerebellar Ataxia Type 1 Model Mice.
 

Author(s): Fathul Huda, Yiping Fan, Mamiko Suzuki, Ayumu Konno, Yasunori Matsuzaki, Nobutaka Takahashi, Jerry K Y Chan, Hirokazu Hirai

Journal:

 

Mesenchymal stem cells (MSCs) migrate to damaged tissues, where they participate in tissue repair. Human fetal MSCs (hfMSCs), compared with adult MSCs, have higher proliferation rates, a greater differentiation capacity and longer telomeres with reduced senescence. Therefore, transplantation ...

Last Updated: 31 Dec 1969

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Brain Metabolic Changes of Cervical Dystonia with Spinocerebellar Ataxia Type 1 after Botulinum Toxin Therapy.
 

Author(s): Akio Kikuchi, Atsushi Takeda, Naoto Sugeno, Emiko Miura, Kazuhiro Kato, Takafumi Hasegawa, Toru Baba, Masatoshi Konno, Ryuji Oshima, Shoichi Watanuki, Kotaro Hiraoka, Manabu Tashiro, Masashi Aoki

Journal: Intern. Med.. 2016 ;55(14):1919-22.

 

We occasionally observe long-term remission of cervical dystonia after several botulinum toxin treatments. However, botulinum toxin transiently acts on neuromuscular junctions. We herein report that a cervical dystonia patient with spinocerebellar ataxia type 1 could have long-term ...

Last Updated: 31 Dec 1969

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A longitudinal investigation into cognition and disease progression in spinocerebellar ataxia types 1, 2, 3, 6, and 7.
 

Author(s): Amy Moriarty, Arron Cook, Helen Hunt, Matthew E Adams, Lisa Cipolotti, Paola Giunti

Journal:

 

The natural history of clinical symptoms in the spinocerebellar ataxias (SCA)s has been well characterised. However there is little longitudinal data comparing cognitive changes in the most common SCA subtypes over time. The present study provides a preliminary longitudinal characterisation ...

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 1" returned 4 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):866-874.

 

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: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical Trial Readiness for SCA1 and SCA3
 

Status: Not yet recruiting

Condition Summary: Spinocerebellar Ataxia Type 1; Spinocerebellar Ataxia 3

 

Last Updated: 9 Apr 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: 16 Aug 2017

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