H00848 | |
H number | H00848 |
Name | Ataxia with ocular apraxia |
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 |
Network | nt06504(H00848) Base excision repair nt06530(H00848) PI3K signaling |
Gene | (AOA1) APTX [HSA:54840] [KO:K10863] (AOA2) SETX [HSA:23064] [KO:K10706] (AOA3) PIK3R5 [HSA:23533] [KO:K21290] (AOA4) PNKP [HSA:11284] [KO:K08073] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 8A03.1Y ICD-10: G11.3 G60.2 MeSH: C538013 OMIM: 208920 606002 615217 616267 |
Reference | PMID:21324166 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) DOI:10.1186/1471-2350-12-27 PMID:17572444 (AOA1) 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) DOI:10.1016/j.jns.2007.05.015 PMID:19515850 (AOA2) 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) DOI:10.1093/hmg/ddp278 PMID:22065524 (AOA3) AUTHORS Al Tassan N, Khalil D, Shinwari J, Al Sharif L, Bavi P, Abduljaleel Z, Abu Dhaim N, Magrashi A, Bobis S, Ahmed H, Alahmed S, Bohlega S TITLE A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. JOURNAL Hum Mutat 33:351-4 (2012) DOI:10.1002/humu.21650 PMID:25728773 (AOA4) AUTHORS Bras J, Alonso I, Barbot C, Costa MM, Darwent L, Orme T, Sequeiros J, Hardy J, Coutinho P, Guerreiro R TITLE Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. JOURNAL Am J Hum Genet 96:474-9 (2015) DOI:10.1016/j.ajhg.2015.01.005 |