National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Autosomal dominant cerebellar ataxia


Other Names:
ADCA; Pierre Marie cerebellar ataxia (formerly)
Subtypes:
This disease is grouped under:
Autosomal dominant cerebellar ataxia (ADCA) is one of the genetic subtypes of hereditary ataxia. Although the signs and symptoms vary depending on the specific type, the most common symptom of ADCA is poor movement coordination (ataxia) especially a jerky, unsteady walking style (gait). Coordination of hands and clearness of speech (dysarthria) are also affected.  The area of the brain controlling balance and movement decreases in size (cerebellar atrophy). This can be seen on brain imaging.   The ataxia usually slowly worsens over time.  While the age of onset can vary, the symptoms most commonly begin during adult years. ADCAs include the autosomal dominant spinocerebellar ataxias (SCAs), all of the episodic ataxias (EAs) and the one dominant type of spastic ataxia (SPAX1).   Mutations or changes in many different genes are known to cause many of the different types of ADCA, but more genes are still being discovered. Inheritance is autosomal dominant . Diagnosis of ADCA is based on clinical history, physical examination, genetic testing, and ruling out other diseases. While there is still no cure, treatment options for specific symptoms may be available, depending on the type and severity of symptoms. Management of ACDA may involve several specialists.[1][2][3][4]
Last updated: 7/10/2016

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • The National Ataxia Foundation, a nonprofit organization dedicated to improving the lives of persons affected by ataxia, provides lists of neurologists, ataxia clinics, and movement disorder clinics.

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  1. Bird TD. Hereditary Ataxia. GeneReviews. March, 2016; http://www.ncbi.nlm.nih.gov/books/NBK1138/.
  2. Fuhioka S and Wszolek Z. Autosomal dominant cerebellar ataxia type 1. Orphanet. June 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=94145.
  3. Matilla-Dueñas A, Ashizawa T, Brice A, Magri S, McFarland KN, Pandolfo M, Pulst SM, Riess O, Rubinsztein DC, Schmidt J, Schmidt T, Scoles DR, Stevanin G, Taroni F, Underwood BR, and Sánchez I. Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias. Cerebellum (London, England). April 2014; 13(2):269-302. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943639/.
  4. Braga Neto P, Pedroso JL, Kuo SH, Marcondes Jr CF, Teive HA, Barsottini OG. Current concepts in the treatment of hereditary ataxias. Arq Neuropsiquiatr. March 2016; 74(3):244-52. https://www.ncbi.nlm.nih.gov/pubmed/27050855.