Montagna P, Cortelli P, Gambetti P, Lugaresi E
Institute of Neurology, University of Bologna, Italy.
Adv Neuroimmunol. 1995;5(1):13-21. doi: 10.1016/0960-5428(94)00042-m.
Fatal Familial Insomnia (FFI) is an autosomal dominant prion disease, characterized by prominent degeneration of the thalamus and involving impaired control of the sleep-wake cycle and of autonomic and endocrine functions. Profound alterations in the sleep-wake cycle consist of progressive decrease or complete absence of sleep activity and loss of any intrinsic cyclic organization of residual sleep. Unbalanced sympathergic activation with preserved parasympathetic drive, associated with chronic secondary hypertension and loss of the physiological nocturnal decrease in blood pressure constitute the characteristic autonomic changes. Neuroendocrine studies document hypercortisolism with abnormal feed-back suppression of adrenocorticotrophic hormone, constantly elevated catecholamine levels and abnormal secretory patterns of growth hormone, prolactin and melatonin. Advanced stages of the disease are invariably characterized by the disappearance of any circadian autonomic and neuroendocrine rhythmicity. FFI represents a model disease emphasizing the correlations among the different sleep, autonomic and neuroendocrine functions. Clinico-pathological correlations demonstrate the role of the thalamus as an integrative neural structure placed between the limbic system and the hypothalamus and controlling the homeostatic balance of the organism.
致死性家族性失眠症（FFI）是一种常染色体显性朊病毒病，其特征为丘脑显著退化，并涉及睡眠-觉醒周期控制受损以及自主神经和内分泌功能紊乱。睡眠-觉醒周期的深刻改变包括睡眠活动逐渐减少或完全缺失，以及残余睡眠的任何内在周期性组织丧失。交感神经激活失衡但副交感神经驱动保留，伴有慢性继发性高血压以及生理性夜间血压下降消失，构成了特征性的自主神经变化。神经内分泌研究表明存在高皮质醇血症，促肾上腺皮质激素的反馈抑制异常，儿茶酚胺水平持续升高，以及生长激素、催乳素和褪黑素的分泌模式异常。疾病晚期的特征总是任何昼夜自主神经和神经内分泌节律消失。FFI是一种典型疾病，强调了不同睡眠、自主神经和神经内分泌功能之间的相关性。临床病理相关性证明了丘脑作为位于边缘系统和下丘脑之间并控制机体稳态平衡的整合神经结构的作用。
