Ataxia with ocular apraxia

Definition:

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.

References:

[1]. Amila Suraweera, et al. Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation. Hum Mol Genet. 2009 Sep 15;18(18):3384-96. [Content Brief]

[2]. Jose Bras, et al. Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. Am J Hum Genet. 2015 Mar 5;96(3):474-9. [Content Brief]

[3]. Moreno Ferrarini, et al. A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization. J Neurol Sci. 2007 Sep 15;260(1-2):219-24. [Content Brief]

[4]. Nada Al Tassan, et al. A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. Hum Mutat. 2012 Feb;33(2):351-4. [Content Brief]

[5]. Saeed A Bohlega, et al. Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia. BMC Med Genet. 2011 Feb 16;12:27. [Content Brief]

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