Cognitive impairment profile in adult patients with Niemann pick type C disease

@inproceedings{Heitz2017CognitiveIP,
  title={Cognitive impairment profile in adult patients with Niemann pick type C disease},
  author={Camille Heitz and St{\'e}phane Epelbaum and Yann Nadjar},
  booktitle={Orphanet journal of rare diseases},
  year={2017}
}
BACKGROUND Cognitive impairment is one of the core symptoms of Niemann Pick type C (NPC) disease, but few data concerning the neuropsychological profile of NPC patients are available. The aim of our study was to characterize cognitive impairments in NPC disease and to assess the evolution of these symptoms and the impact of miglustat on cognitive follow-up. METHODS We conducted a retrospective study of 21 adult patients diagnosed with NPC disease. Neuropsychological data (global cognitive… CONTINUE READING
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