Ataxia

Common Name(s)

Ataxia

Ataxia occurs as a result of damage to a part of the brain called the cerebellum which controls muscle movement. Other causes of ataxia include alcohol abuse, stroke, tumor, cerebral palsy or multiple sclerosis. Ataxia can be passed on through your genes without your parents ever showing symptoms of having the disease. Common symptoms of ataxia include slurred speech, difficulty walking, losing your balance and having trouble swallowing. As ataxia develops, it may become harder to walk, button up shirts, grasp small objects, swallow food/saliva or control your eye movements. Treatment for ataxia includes physical therapy, occupational therapy and/or speech therapy depending on what type of ataxia you have been diagnosed with.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ataxia" for support, advocacy or research.

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Ben's Friends

Our mission is to ensure that everyone in the world with a rare disease has a safe place to go and connect with others like them.

Last Updated: 11 Jul 2016

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Movement Disorder Society

The Movement Disorder Society (MDS) is an international professional society of clinicians, scientists, and other healthcare professionals, who are interested in Parkinson's disease, related neurodegenerative and neurodevelopmental disorders, hyperkinetic movement disorders, and abnormalities in muscle tone and motor control.

Last Updated: 5 May 2014

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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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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ataxia" for support, advocacy or research.

Logo
Ben's Friends

Our mission is to ensure that everyone in the world with a rare disease has a safe place to go and connect with others like them.

http://www.bensfriends.org

Last Updated: 11 Jul 2016

View Details
Movement Disorder Society

The Movement Disorder Society (MDS) is an international professional society of clinicians, scientists, and other healthcare professionals, who are interested in Parkinson's disease, related neurodegenerative and neurodevelopmental disorders, hyperkinetic movement disorders, and abnormalities in muscle tone and motor control.

http://www.movementdisorders.org/MDS.htm

Last Updated: 5 May 2014

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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

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 "Ataxia" returned 1846 free, full-text research articles on human participants. First 3 results:

Somatic instability of the expanded GAA repeats in Friedreich's ataxia.
 

Author(s): Ashlee Long, Jill S Napierala, Urszula Polak, Lauren Hauser, Arnulf H Koeppen, David R Lynch, Marek Napierala

Journal:

 

Friedreich's ataxia (FRDA) is a genetic neurodegenerative disorder caused by transcriptional silencing of the frataxin gene (FXN) due to expansions of GAA repeats in intron 1. FRDA manifests with multiple symptoms, which may include ataxia, cardiomyopathy and diabetes mellitus. Expanded ...

Last Updated: 31 Dec 1969

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A Rare Case of Cerebellar Ataxia Due to Voltage-Gated Calcium Channel and Glutamic Acid Decarboxylase Autoantibodies.
 

Author(s): Giuseppe Annunziata, Pamela Lobo, Cristian Carbuccia

Journal:

 

BACKGROUND Autoimmune cerebellar ataxia can be paraneoplastic in nature or can occasionally present without evidence of an ongoing malignancy. The detection of specific autoantibodies has been statistically linked to different etiologies. CASE REPORT A 55-year-old African-American ...

Last Updated: 31 Dec 1969

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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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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Ataxia" returned 146 free, full-text review articles on human participants. First 3 results:

Mechanisms of Non-canonical Activation of Ataxia Telangiectasia Mutated.
 

Author(s): S V Khoronenkova

Journal: Biochemistry Mosc.. 2016 Dec;81(13):1669-1675.

 

ATM is a master regulator of the cellular response to DNA damage. The classical mechanism of ATM activation involves its monomerization in response to DNA double-strand breaks, resulting in ATM-dependent phosphorylation of more than a thousand substrates required for cell cycle progression, ...

Last Updated: 31 Dec 1969

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Ataxia in children: early recognition and clinical evaluation.
 

Author(s): Piero Pavone, Andrea D Praticò, Vito Pavone, Riccardo Lubrano, Raffaele Falsaperla, Renata Rizzo, Martino Ruggieri

Journal:

 

Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance. It is mainly caused by dysfunction of the complex circuitry connecting the basal ganglia, cerebellum and cerebral cortex. A careful history, ...

Last Updated: 31 Dec 1969

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Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome.
 

Author(s): Mateusz Maciejczyk, Bozena Mikoluc, Barbara Pietrucha, Edyta Heropolitanska-Pliszka, Malgorzata Pac, Radosław Motkowski, Halina Car

Journal: Redox Biol. 2017 04;11():375-383.

 

Rare pleiotropic genetic disorders, Ataxia-telangiectasia (A-T), Bloom syndrome (BS) and Nijmegen breakage syndrome (NBS) are characterised by immunodeficiency, extreme radiosensitivity, higher cancer susceptibility, premature aging, neurodegeneration and insulin resistance. Some ...

Last Updated: 31 Dec 1969

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Cerebellar Non-invasive Stimulation in Ataxias
 

Status: Recruiting

Condition Summary: Cerebellar Ataxia

 

Last Updated: 7 Jul 2017

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Biomarkers in Friedreich's Ataxia
 

Status: Recruiting

Condition Summary: Friedreich's Ataxia

 

Last Updated: 7 Sep 2017

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Effects of Deep Brain Stimulation of the Dentate Nucleus on Cerebellar Ataxia
 

Status: Recruiting

Condition Summary: Cerebellar Ataxia

 

Last Updated: 13 Nov 2017

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