Ataxia with oculomotor apraxia

Semin Pediatr Neurol. 2008 Dec;15(4):216-20. doi: 10.1016/j.spen.2008.10.014.


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.

Publication types

  • Case Reports

MeSH terms

  • Apraxias / diagnosis*
  • Apraxias / genetics
  • Ataxia / diagnosis*
  • Ataxia / genetics
  • Ataxia Telangiectasia Mutated Proteins
  • Cell Cycle Proteins / genetics*
  • Child
  • DNA-Binding Proteins / genetics*
  • Gene Deletion
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Oculomotor Nerve Diseases / diagnosis*
  • Oculomotor Nerve Diseases / genetics
  • Polymorphism, Single Nucleotide
  • Protein Serine-Threonine Kinases / genetics*
  • Telangiectasis / diagnosis
  • Telangiectasis / genetics
  • Tumor Suppressor Proteins / genetics*


  • Cell Cycle Proteins
  • DNA-Binding Proteins
  • Tumor Suppressor Proteins
  • ATM protein, human
  • Ataxia Telangiectasia Mutated Proteins
  • Protein Serine-Threonine Kinases