The diverse neurological features of Niemann-Pick disease type C: a report of two cases.

@article{Coleman1988TheDN,
  title={The diverse neurological features of Niemann-Pick disease type C: a report of two cases.},
  author={Richard J. Coleman and Stephanie A. Robb and Brian Lake and Elise M Brett and Anita E. Harding},
  journal={Movement disorders : official journal of the Movement Disorder Society},
  year={1988},
  volume={3 4},
  pages={295-9}
}
Two cases of Niemann-Pick disease type C are described in order to illustrate the variable neurological features of this rare condition. One presented with a predominantly akinetic-rigid syndrome at the age of 5 years. The second developed progressive ataxia, accompanied by a vertical gaze palsy, when she was 13. Neither patient had hepatosplenomegaly; the diagnosis of Niemann-Pick disease type C was based on finding foamy storage cells in bone marrow aspirates.