KEGG   DISEASE: Ataxia with ocular apraxia (AOA)Help
Entry
H00848                      Disease                                

Name
Ataxia with ocular apraxia (AOA), including:
Ataxia telangiectasia (AT)
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; Eye disease
Brite
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
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]
Comment
See also H00064 Ataxia telangiectasia (AT).
Other DBs
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
PMID:22065524 (gene)
  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
PMID:25728773 (gene)
  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

» Japanese version

DBGET integrated database retrieval system