Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit

J Neurol Neurosurg Psychiatry. 2008 Feb;79(2):234-6. doi: 10.1136/jnnp.2007.127233.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Apraxias / diagnosis
  • Apraxias / genetics*
  • Atrophy
  • Cerebellum / pathology
  • Child
  • Chromosome Deletion*
  • Cognition Disorders / diagnosis
  • Cognition Disorders / genetics*
  • Consanguinity
  • DNA-Binding Proteins / genetics*
  • Disability Evaluation
  • Dysarthria / diagnosis
  • Dysarthria / genetics
  • Female
  • Homozygote
  • Humans
  • Neurologic Examination
  • Neuropsychological Tests
  • Nuclear Proteins / genetics*
  • Oculomotor Nerve Diseases / diagnosis
  • Oculomotor Nerve Diseases / genetics*
  • Phenotype*
  • Polymerase Chain Reaction
  • Saccades / genetics
  • Social Isolation
  • Spinocerebellar Degenerations / diagnosis
  • Spinocerebellar Degenerations / genetics*

Substances

  • APTX protein, human
  • DNA-Binding Proteins
  • Nuclear Proteins