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

Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38.
 

Author(s): Marta Manes, Antonella Alberici, Eleonora Di Gregorio, Loredana Boccone, Enrico Premi, Nico Mitro, Maria Pia Pasolini, Claudia Pani, Barbara Paghera, Daniela Perani, Laura Orsi, Chiara Costanzi, Marta Ferrero, Adele Zoppo, Filippo Tempia, Donatella Caruso, Mario Grassi, Alessandro Padovani, Alfredo Brusco, Barbara Borroni

Journal: Ann. Neurol.. 2017 Oct;82(4):615-621.

 

Spinocerebellar ataxia 38 (SCA38) is caused by mutations in the ELOVL5 gene, which encodes an elongase involved in the synthesis of polyunsaturated fatty acids, including docosahexaenoic acid (DHA). As a consequence, DHA is significantly reduced in the serum of SCA38 subjects. In ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.
 

Author(s): Ana I Seixas, Joana R Loureiro, Cristina Costa, Andrés Ordóñez-Ugalde, Hugo Marcelino, Cláudia L Oliveira, José L Loureiro, Ashutosh Dhingra, Eva Brandão, Vitor T Cruz, Angela Timóteo, Beatriz Quintáns, Guy A Rouleau, Patrizia Rizzu, Ángel Carracedo, José Bessa, Peter Heutink, Jorge Sequeiros, Maria J Sobrido, Paula Coutinho, Isabel Silveira

Journal: Am. J. Hum. Genet.. 2017 Jul;101(1):87-103.

 

Advances in human genetics in recent years have largely been driven by next-generation sequencing (NGS); however, the discovery of disease-related gene mutations has been biased toward the exome because the large and very repetitive regions that characterize the non-coding genome ...

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" returned 21 free, full-text review articles on human participants. First 3 results:

Spinocerebellar ataxia 15: A phenotypic review and expansion.
 

Author(s): Philip W Tipton, Kimberly Guthrie, Audrey Strongosky, Ronald Reimer, Zbigniew K Wszolek

Journal: Neurol. Neurochir. Pol.. ;51(1):86-91.

 

Spinocerebellar ataxia 15 (SCA15) is a clinically heterogeneous movement disorder characterized by the adult onset of slowly progressive cerebellar ataxia. ITPR1 is the SCA15 causative gene. However, despite numerous reports of genetically-confirmed SCA15, phenotypic uncertainty persists. ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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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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Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 (ATRIL)
 

Status: Not yet recruiting

Condition Summary: Spinocerebellar Ataxia Type 2

 

Last Updated: 17 Nov 2017

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