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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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.

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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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 1569 free, full-text research articles on human participants. First 3 results:

Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.
 

Author(s): Wahiba Hamza, Lamia Ali Pacha, Tarik Hamadouche, Jean Muller, Nathalie Drouot, Farida Ferrat, Samira Makri, Malika Chaouch, Meriem Tazir, Michel Koenig, Traki Benhassine

Journal:

 

Autosomal recessive cerebellar ataxias (ARCA) are a complex group of neurodegenerative disorders with great genetic and phenotypic heterogeneity, over 30 genes/loci have been associated with more than 20 different clinical forms of ARCA. Genetic heterogeneity combined with highly ...

Last Updated: 13 Jun 2015

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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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SPG7 mutations are a common cause of undiagnosed ataxia.
 

Author(s): Gerald Pfeffer, Angela Pyle, Helen Griffin, Jack Miller, Valerie Wilson, Lisa Turnbull, Katherine Fawcett, David Sims, Gail Eglon, Marios Hadjivassiliou, Rita Horvath, Andrea NĂ©meth, Patrick F Chinnery

Journal: Neurology. 2015 Mar;84(11):1174-6.

 

Last Updated: 17 Mar 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 118 free, full-text review articles on human participants. First 3 results:

Recently emerging signaling landscape of ataxia-telangiectasia mutated (ATM) kinase.
 

Author(s): Ammad Ahmad Farooqi, Rukset Attar, Belkis Atasever Arslan, Mirna Azalea Romero, Muhammad Fahim ul Haq, Muhammad Imran Qadir

Journal: Asian Pac. J. Cancer Prev.. 2014 ;15(16):6485-8.

 

Research over the years has progressively and sequentially provided near complete resolution of regulators of the DNA repair pathways which are so important for cancer prevention. Ataxia-telangiectasia mutated kinase (ATM), a high-molecular-weight PI3K-family kinase has emerged as ...

Last Updated: 29 Aug 2014

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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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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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