摘要
The authors present clinical, sleep, and neuroendocrine features of a patient with genetically confirmed fatal familial insomnia (D178N mutation with heteroz ygosity at codon 129 of the prion protein gene). The patient exhibited pseudohyp ersomnia behavior instead of insomnia. There was profound alteration in the slee p-wake cycle with a clear dissociation in the disappearance of circadian and n euroendocrine rhythms, findings unrelated to abnormalities in the hypocretinergi c system.
The authors present clinical, sleep, and neuroendocrine features of a patient with genetically confirmed fatal familial insomnia (D178N mutation with heteroz ygosity at codon 129 of the prion protein gene). The patient exhibited pseudohyp ersomnia behavior instead of insomnia. There was profound alteration in the slee p-wake cycle with a clear dissociation in the disappearance of circadian and n euroendocrine rhythms, findings unrelated to abnormalities in the hypocretinergi c system.
出处
《世界核心医学期刊文摘(神经病学分册)》
2005年第5期46-46,共1页
Digest of the World Core Medical Journals:Clinical Neurology