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

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
 

Author(s): Lauren M Watson, Elizabeth Bamber, Ricardo Parolin Schnekenberg, Jonathan Williams, Conceição Bettencourt, Jennifer Lickiss, Sandeep Jayawant, Katherine Fawcett, Samuel Clokie, Yvonne Wallis, Penny Clouston, David Sims, Henry Houlden, Esther B E Becker, Andrea H Németh

Journal: Am. J. Hum. Genet.. 2017 Sep;101(3):451-458.

 

The metabotropic glutamate receptor 1 (mGluR1) is abundantly expressed in the mammalian central nervous system, where it regulates intracellular calcium homeostasis in response to excitatory signaling. Here, we describe heterozygous dominant mutations in GRM1, which encodes mGluR1, ...

Last Updated: 8 Sep 2017

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Knockdown and replacement therapy mediated by artificial mirtrons in spinocerebellar ataxia 7.
 

Author(s): Helen J Curtis, Yiqi Seow, Matthew J A Wood, Miguel A Varela

Journal: Nucleic Acids Res.. 2017 Jul;45(13):7870-7885.

 

We evaluate a knockdown-replacement strategy mediated by mirtrons as an alternative to allele-specific silencing using spinocerebellar ataxia 7 (SCA7) as a model. Mirtrons are introns that form pre-microRNA hairpins after splicing, producing RNAi effectors not processed by Drosha. ...

Last Updated: 2 Jun 2017

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First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China.
 

Author(s): Hiroyuki Naito, Tetsuya Takahashi, Masaki Kamada, Hiroyuki Morino, Hiroyo Yoshino, Nobutaka Hattori, Hirofumi Maruyama, Hideshi Kawakami, Masayasu Matsumoto

Journal:

 

Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant cerebellar ataxia that is variably accompanied by epilepsy and other neurological disorders. It is caused by an expansion of the ATTCT pentanucleotide repeat in intron 9 of the ATXN10 gene. Until now, SCA10 was almost ...

Last Updated: 25 May 2017

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

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: 19 Oct 2016

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Gene suppression strategies for dominantly inherited neurodegenerative diseases: lessons from Huntington's disease and spinocerebellar ataxia.
 

Author(s): Megan S Keiser, Holly B Kordasiewicz, Jodi L McBride

Journal: Hum. Mol. Genet.. 2016 Apr;25(R1):R53-64.

 

RNA-targeting approaches are emerging as viable therapeutics that offer an alternative method to modulate traditionally 'undrugable' targets. In the case of dominantly inherited neurodegenerative diseases, gene suppression strategies can target the underlying cause of these intractable ...

Last Updated: 22 Mar 2016

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Kv3.3 potassium channels and spinocerebellar ataxia.
 

Author(s): Yalan Zhang, Leonard K Kaczmarek

Journal: J. Physiol. (Lond.). 2016 Aug;594(16):4677-84.

 

The voltage-dependent potassium channel subunit Kv3.3 is expressed at high levels in cerebellar Purkinje cells, in auditory brainstem nuclei and in many other neurons capable of firing at high rates. In the cerebellum, it helps to shape the very characteristic complex spike of Purkinje ...

Last Updated: 15 Aug 2016

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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: 18 Oct 2017

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Hong Kong Spinocerebellar Ataxias Registry
 

Status: Recruiting

Condition Summary: Spinocerebellar Ataxia

 

Last Updated: 7 Nov 2017

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An Open-label Trial of Intravenous Immune Globulin (IVIG)in Treating Spinocerebellar Ataxias
 

Status: Recruiting

Condition Summary: Spinocerebellar Ataxias

 

Last Updated: 6 Jun 2016

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