title: Progressive ataxia associated with ocular apraxia type 1 (AOA1) with a presence of a novel mutation on the aprataxin gene.
abstract: Ataxia, although rare, can be a symptom of many debilitating movement disorders. Hereditary ataxias are one subset of this condition and manifest when there is a genetic abnormality involved. Ataxia oculomotor apraxia type 1 (AOA1), an autosomal recessive ataxia, results from a mutation on the aprataxin gene (APTX). We characterized a novel homozygous deletion mutation (IVS4-12delT) on the APTX gene in a 14-year-old male born to consanguineous parents. This case report emphasizes the importance of investigating and increasing awareness of novel genetic mutations in order to help diagnose and further classify hereditary ataxias.
authors: Parkinson's Clinic of Eastern Toronto and Movement Disorders Center, Toronto, Canada.
authors: Abdul Qayyum
authors: AQ
authors: Rana
authors: Osama A
authors: OA
authors: Khan
authors: Raza
authors: R
authors: Akthar
keywords: AOA1; aprataxin gene; hereditary ataxia; mutation; oculomotor apraxia type 1
references: Clin Pediatr (Phila). 1988 Jan;27(1):27-31
references: 3275520
references: Curr Opin Neurol. 2011 Aug;24(4):339-45
references: 21734495
references: Neurology. 2004 Sep 14;63(5):928-9
references: 15365154
references: J Child Neurol. 2005 Jul;20(7):619-20
references: 16159533
references: Science. 1996 Mar 8;271(5254):1423-7
references: 8596916
references: Brain. 2003 Dec;126(Pt 12):2761-72
references: 14506070
references: J Biol Chem. 1996 Feb 9;271(6):2875-8
references: 8621672
references: Proc Natl Acad Sci U S A. 2011 May 3;108(18):7437-42
references: 21502511
references: Nat Genet. 2001 Oct;29(2):184-8
references: 11586299
references: Hum Mutat. 2011 Apr;32(4):E2118-33
references: 21412945
references: Nat Genet. 2001 Oct;29(2):189-93
references: 11586300
references: J Neurol Sci. 2007 Sep 15;260(1-2):219-24
references: 17572444