KEGG   DISEASE: Ataxia with ocular apraxiaHelp
Entry
H00848                      Disease                                

Name
Ataxia with ocular apraxia
  Subgroup
Ataxia telangiectasia (AT) [DS:H00064]
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
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H00848  Ataxia with ocular apraxia
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Movement disorders
   8A03  Ataxic disorders
    H00848  Ataxia with ocular apraxia
BRITE hierarchy
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]
Other DBs
ICD-11: 8A03.1Y
ICD-10: G11.3 G60.2
MeSH: C538013
OMIM: 208920 606002 615217 616267
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)
DOI:10.1186/1471-2350-12-27
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)
DOI:10.1016/j.jns.2007.05.015
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)
DOI:10.1093/hmg/ddp278
Reference
  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
Reference
  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

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