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 choeroathetosis. 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

(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]

PMID:21324166

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)

PMID:17572444

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)

PMID:19515850

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)