Neuroacanthocytosis ‐ the variability of presenting symptoms in two siblings

  title={Neuroacanthocytosis ‐ the variability of presenting symptoms in two siblings},
  author={Jan O Aasly and Toril Skandsen and Magne R\o},
  journal={Acta neurologica Scandinavica},
  volume={100 5},
Neuroacanthocytosis is a progressive multisystem disease with a wide range of symptoms. The involuntary movements mainly include chorea and orofaciolingual dyskinesias. The descriptive name of the disease refers to the presence of abnormal erythrocytes in peripheral blood. Two siblings are presented. One young female had dystonia, self-mutilating behaviour, lip biting and eating difficulties. Her brother had repeated generalized epileptic seizures several years before developing choreatic… CONTINUE READING