KEGG   DISEASE: H00848Help
Entry
H00848                      Disease                                

Name
Ataxia with ocular apraxia (AOA), including:
Ataxia telangiectasia (AT);
Ataxia telangiectasia like disorder (ATLD);
Ataxia oculomotor apraxia type 1 (AOA1);
Ataxia oculomotor apraxia type 2 (AOA2)
Description
Ataxia with oculomotor apraxia (AOA) is a group of autosomal recessive cerebellar ataxias mainly characterized by ataxia, oculomotor apraxia and choreoathetosis. AOA includes ataxia telangiectasia (AT), ataxia telangiectasia like disorder (ATLD), ataxia oculomotor apraxia type 1 (AOA1) and ataxia oculomotor apraxia type 2 (AOA2). AT, ATLD, and AOA1 are due to homozygous mutations in genes encoding a protein involved in DNA repair. Ophthalmic features of AT include conjunctival telangiectasia, strabismus, saccadic dysfunction with head thrusts, and convergence insufficiency. AOA1 is typically characterized by early-onset cerebellar ataxia, oculomotor apraxia, hypoalbuminemia, hypercholesterolemia and late axonal sensori-motor neuropathy. The gene mutated in AOA2, SETX, encodes senataxin, a putative DNA/RNA helicase which has been shown to play a role in the response to oxidative stress.
Category
Nervous system disease; Eye disease
BRITE hierarchy
Pathway
Homologous recombination
Non-homologous end-joining
Cell cycle
p53 signaling pathway
Apoptosis
Gene
(AT) ATM [HSA:472] [KO:K04728]
(ATLD) MRE11A [HSA:4361] [KO:K10865]
(AOA1) APTX [HSA:54840] [KO:K10863]
(AOA2) SETX [HSA:23064] [KO:K10706]
Comment
AT and ATLD are also described in H00064 and H00094. [DS:H00064] [DS:H00094]
Other DBs
Reference
  Authors
Bohlega SA, Shinwari JM, Al Sharif LJ, Khalil DS, Alkhairallah TS, Al Tassan NA
  Title
Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.
  Journal
BMC Med Genet 12:27 (2011)
Reference
  Authors
Ferrarini M, Squintani G, Cavallaro T, Ferrari S, Rizzuto N, Fabrizi GM
  Title
A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization.
  Journal
J Neurol Sci 260:219-24 (2007)
Reference
  Authors
Suraweera A, Lim Y, Woods R, Birrell GW, Nasim T, Becherel OJ, Lavin MF
  Title
Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in  transcriptional regulation.
  Journal
Hum Mol Genet 18:3384-96 (2009)

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