Rare Oncology News

Disease Profile

Autosomal dominant cerebellar ataxia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

ADCA; Pierre Marie cerebellar ataxia (formerly)

Summary

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]

References

  1. Bird TD. Hereditary Ataxia. GeneReviews. March, 2016; https://www.ncbi.nlm.nih.gov/books/NBK1138/.
  2. Fuhioka S and Wszolek Z. Autosomal dominant cerebellar ataxia type 1. Orphanet. June 2014; https://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.