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.

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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Advocacy and Support Organizations

 

Condition Specific Organizations

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

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

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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 1558 free, full-text research articles on human participants. First 3 results:

Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.
 

Author(s): Jose Bras, Isabel Alonso, Clara Barbot, Maria Manuela Costa, Lee Darwent, Tatiana Orme, Jorge Sequeiros, John Hardy, Paula Coutinho, Rita Guerreiro

Journal: Am. J. Hum. Genet.. 2015 Mar;96(3):474-9.

 

Hereditary autosomal-recessive cerebellar ataxias are a genetically and clinically heterogeneous group of disorders. We used homozygosity mapping and exome sequencing to study a cohort of nine Portuguese families who were identified during a nationwide, population-based, systematic ...

Last Updated: 9 Mar 2015

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NADPH oxidase 4 is a critical mediator in Ataxia telangiectasia disease.
 

Author(s): Urbain Weyemi, Christophe E Redon, Towqir Aziz, Rohini Choudhuri, Daisuke Maeda, Palak R Parekh, Michael Y Bonner, Jack L Arbiser, William M Bonner

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2015 Feb;112(7):2121-6.

 

Ataxia telangiectasia (A-T), a rare autosomal recessive disorder characterized by progressive cerebellar degeneration and a greatly increased incidence of cancer among other symptoms, is caused by a defective or missing ataxia telangiectasia mutated (ATM) gene. The ATM protein has ...

Last Updated: 18 Feb 2015

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Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model.
 

Author(s): Francesca Maltecca, Elisa Baseggio, Francesco Consolato, Davide Mazza, Paola Podini, Samuel M Young, Ilaria Drago, Ben A Bahr, Aldamaria Puliti, Franca Codazzi, Angelo Quattrini, Giorgio Casari

Journal: J. Clin. Invest.. 2015 Jan;125(1):263-74.

 

Spinocerebellar ataxia type 28 (SCA28) is a neurodegenerative disease caused by mutations of the mitochondrial protease AFG3L2. The SCA28 mouse model, which is haploinsufficient for Afg3l2, exhibits a progressive decline in motor function and displays dark degeneration of Purkinje ...

Last Updated: 6 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 "Ataxia" returned 116 free, full-text review articles on human participants. First 3 results:

The genetics of ataxia: through the labyrinth of the Minotaur, looking for Ariadne's thread.
 

Author(s): M Mancuso, D Orsucci, G Siciliano, U Bonuccelli

Journal: J. Neurol.. 2014 Sep;261 Suppl 2():S528-41.

 

Among the hereditary cerebellar ataxias (CAs), there are at least 36 different forms of autosomal dominant cerebellar ataxia (ADCAs), 20 autosomal recessive cerebellar ataxias (ARCAs), two X-linked ataxias, and several forms of ataxia associated with mitochondrial defects. Despite ...

Last Updated: 22 Aug 2014

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A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.
 

Author(s): Liana Veneziano, Michael H Parkinson, Elide Mantuano, Marina Frontali, Kailash P Bhatia, Paola Giunti

Journal: Cerebellum. 2014 Oct;13(5):588-95.

 

Benign hereditary chorea (BHC) is a rare autosomal dominant condition characterized by early onset, non-progressive chorea, usually caused by mutations in the thyroid transcription factor-1 gene (TITF1). We describe a novel mutation arising de novo in a proband presenting in infancy ...

Last Updated: 5 Sep 2014

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Motor training in degenerative spinocerebellar disease: ataxia-specific improvements by intensive physiotherapy and exergames.
 

Author(s): Matthis Synofzik, Winfried Ilg

Journal: Biomed Res Int. 2014 ;2014():583507.

 

The cerebellum is essentially involved in movement control and plays a critical role in motor learning. It has remained controversial whether patients with degenerative cerebellar disease benefit from high-intensity coordinative training. Moreover, it remains unclear by which training ...

Last Updated: 30 May 2014

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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

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: 30 Apr 2015

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Immunogenicity of Pneumococcal Vaccines in Ataxia-telangiectasia Patients
 

Status: Not yet recruiting

Condition Summary: Ataxia Telangiectasia

 

Last Updated: 15 Mar 2010

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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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