KEGG   DISEASE: H00848Help
H00848                      Disease                                

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)
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.
Nervous system disease; Eye disease
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H00848  Ataxia with ocular apraxia (AOA)
Human diseases in ICD-10 classification [BR:br08403]
 6. Diseases of the nervous system (G00-G99)
  G10-G14  Systemic atrophies primarily affecting the central nervous system
   G11  Hereditary ataxia
    H00848  Ataxia with ocular apraxia (AOA)
  G60-G64  Polyneuropathies and other disorders of the peripheral nervous system
   G60  Hereditary and idiopathic neuropathy
    H00848  Ataxia with ocular apraxia (AOA)
BRITE hierarchy
Homologous recombination
Non-homologous end-joining
Cell cycle
p53 signaling pathway
(AT) ATM [HSA:472] [KO:K04728]
(ATLD) MRE11A [HSA:4361] [KO:K10865]
(AOA1) APTX [HSA:54840] [KO:K10863]
(AOA2) SETX [HSA:23064] [KO:K10706]
AT and ATLD are also described in H00064 and H00094. [DS:H00064] [DS:H00094]
Other DBs
Bohlega SA, Shinwari JM, Al Sharif LJ, Khalil DS, Alkhairallah TS, Al Tassan NA
Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.
BMC Med Genet 12:27 (2011)
Ferrarini M, Squintani G, Cavallaro T, Ferrari S, Rizzuto N, Fabrizi GM
A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization.
J Neurol Sci 260:219-24 (2007)
Suraweera A, Lim Y, Woods R, Birrell GW, Nasim T, Becherel OJ, Lavin MF
Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in  transcriptional regulation.
Hum Mol Genet 18:3384-96 (2009)

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