Neuropsychological profile of adult patients with Niemann–Pick C1 (NPC1) mutations

  title={Neuropsychological profile of adult patients with Niemann–Pick C1 (NPC1) mutations},
  author={Bernhard Klarner and Hans Hermann Kl{\"u}nemann and R. Luerding and Charalampos Aslanidis and Rainer Rupprecht},
  journal={Journal of Inherited Metabolic Disease},
Niemann–Pick type C disease is a fatal neurovisceral disorder linked to dysregulation in cholesterol processing. A medication for this disease is currently being tested in clinical trials. However, there is a lack of information on neuropsychological testing parameters for this disease. One aim of this pilot study was to evaluate a test battery that could be used to assess cognitive deficits in different stages of the disease. A second aim was to determine whether specific functional deficits… CONTINUE READING


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