Ataxia with oculomotor apraxia.
Ataxia-telangiectasia (AT) belongs to a group of recessively inherited disorders characterized by progressive ataxia and oculomotor apraxia. Included in this group are AT, ataxia-telangiectasia-like disorder (ATLD), ataxia with oculomotor apraxia type 1 (AOA 1), ataxia with oculomotor apraxia type 2 (AOA 2), and the recently described AOA3. Common to this group is the underlying cellular defect in the recognition and repair of double-strand or single-strand DNA breaks. Clinical and laboratory features allow one to distinguish between these various disorders. In this report, we describe a child with early onset progressive ataxia, oculomotor apraxia, ocular telangiectasia, and white-matter changes by magnetic resonance imaging, which appears to be yet another novel form of AOA. We designate this condition as AOA-WM to call attention to the central demyelination seen in this variety of ataxia with oculomotor apraxia.
Liu
Wei
W
Department of Neurology, Children's Health Center, St. Joseph's Hospital and Medical Center, Phoenix, AZ 85013, USA.
Narayanan
Vinodh
V
D001072:Apraxias / Q000175:diagnosis* / Q000235:genetics; D001259:Ataxia / Q000175:diagnosis* / Q000235:genetics; D064007:Ataxia Telangiectasia Mutated Proteins; D018797:Cell Cycle Proteins / Q000235:genetics*; D002648:Child; D004268:DNA-Binding Proteins / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D015840:Oculomotor Nerve Diseases / Q000175:diagnosis* / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D013684:Telangiectasis / Q000175:diagnosis / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics*
D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases