%0 Journal Article
%T Clinical and Molecular Characterization of Ataxia with Oculomotor Apraxia Patients In Saudi Arabia
%A Saeed A Bohlega
%A Jameela M Shinwari
%A Latifa J Al Sharif
%A Dania S Khalil
%A Thamer S Alkhairallah
%A Nada A Al Tassan
%J BMC Medical Genetics
%D 2011
%I BioMed Central
%R 10.1186/1471-2350-12-27
%X This study was conducted in the period between 2005-2010 to clinically and molecularly characterize patients with AOA phenotype. Comprehensive sequencing of all coding exons of previously reported genes related to this disorder (APTX, SETX and MRE11).A novel nonsense truncating mutation c.6859 C > T, R2287X in SETX gene was identified in patients from one family with AOA2. The previously reported missense mutation W210C in MRE11 gene was identified in two families with autosomal recessive ataxia and oculomotor apraxia.Mutations in APTX , SETX and MRE11 are common in patients with autosomal recessive ataxia and oculomotor apraxia. The results of the comprehensive screening of these genes in 4 Saudi families identified mutations in SETX and MRE11 genes but failed to identify mutations in APTX gene.Ataxia with Oculomotor Apraxia (AOA) is an autosomal recessive cerebellar ataxia (ARCA) mainly characterized by ataxia, oculomotor apraxia and choeroathetosis [1]. Two clinically overlapping forms were characterized; AOA1 (MIM# 208920) and AOA2 (MIM# 606002). Patients with AOA1 present with cerebellar ataxia and oculomotor apraxia between ages 2 and 18 years old [2] accompanied later in life by limb dysmetria and sensory-motor neuropathy which may be associated with dystonia or mental retardation, hypoalbuminemia, hypercholesterolemia and normal immunoglobulins and alpha-fetoprotein levels. There is no evidence of chromosomal instability and no reported tumor predisposition in these patients [3]. Patients with AOA2 present with gait ataxia, cerebellar atrophy, sensory-motor neuropathy, ocular-motor apraxia and elevated immunoglobulins and alpha-fetoprotein levels with an age of onset (10-22years)[4]. In addition patients with Ataxia-Telangiectasia-Like Disorder (ATLD also known as MRE11 ataxia MIM# 604391) present with early onset ataxia and oculomotor apraxia [5]Although these forms may not be quite distinctive phenotypically, they are genetically heterogeneous. Mutations i
%U http://www.biomedcentral.com/1471-2350/12/27