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Diseases

Genetic and Rare Diseases Information Center (GARD)

Autosomal dominant cerebellar ataxia


Other Names for this Disease
  • ADCA
  • Pierre Marie cerebellar ataxia (formerly)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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

References

  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.
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Other Names for this Disease
  • ADCA
  • Pierre Marie cerebellar ataxia (formerly)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.