Hypocretin deficiency in Prader-Willi syndrome.

  title={Hypocretin deficiency in Prader-Willi syndrome.},
  author={Soňa Nev{\vs}{\'i}malov{\'a} and Jitka Vankova and I. K. Stepanova and Eva Seemanov{\'a} and Emmanuel Mignot and Seiji Nishino},
  journal={European journal of neurology},
  volume={12 1},
Four patients with clinically and genetically confirmed Prader-Willi syndrome (PWS) underwent nocturnal polysomnograpy (PSG), multiple sleep latency test (MSLT), human leukocyte antigens (HLA) typing and estimation of cerebrospinal fluid (CSF) hypocretin-1 (Hcrt-1) level to investigate if a role of hypothalamic dysfunction and sleep disturbance might be functionally connected through the hypocretin (orexin) system. In all four patients physical examination confirmed extreme obesity (increasing… CONTINUE READING


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