KEGG DISEASE: Ataxia with ocular apraxia

DISEASE: Ataxia with ocular apraxia

Entry

H00848                      Disease

Name

Ataxia with ocular apraxia

Subgroup

Ataxia telangiectasia (AT) [DS:H00064]

Supergrp

Spinocerebellar degeneration [DS:H01616]

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 in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Movement disorders
   8A03  Ataxic disorders
    H00848  Ataxia with ocular apraxia
Pathway-based classification of diseases [BR:br08402]
Replication and repair
  nt06504  Base excision repair
   H00848  Ataxia with ocular apraxia
Signal transduction
  nt06530  PI3K signaling
   H00848  Ataxia with ocular apraxia

Pathway

hsa03410 Base excision repair

hsa04151 PI3K-Akt signaling pathway

Network

nt06504 Base excision repair
nt06530 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]

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

Reference

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

Reference

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

Reference

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

Reference

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

» Japanese version

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Network (5)   
   KEGG NETWORK (2)   
   KEGG VARIANT (3)   
Disease (4)   
   OMIM (4)   
Gene (8)   
   KEGG ORTHOLOGY (4)   
   KEGG GENES (4)   
Literature (5)   
   PubMed (5)   
All databases (22)   

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