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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Cardiovascular dysautonomia in fatal familial insomnia.

Autonomic control of the cardiovascular system was assessed in two patients with Fatal Familial Insomnia. The diagnosis was confirmed at autopsy in patient 1. In the resting state blood pressure and heart rate were higher than controls in patient 1; plasma noradrenaline levels were elevated in both patients. Evaluation of cardiovascular reflexes indicated intact baroreflex pathways but with exaggerated blood pressure and biochemical responses to certain stimuli (postural change, Valsalva manoeuvre, isometric handgrip). There was no pressor response to intravenously infused noradrenaline, an increased response to atropine and diminished depressor and sedative effects to clonidine. Overall these results are indicative of an unbalanced autonomic control with preserved parasympathetic and higher background and stimulated sympathetic activity. These physiological, biochemical and pharmacological data, together with known neuro-pathological findings in this disorder, emphasize the possible role played by the thalamus in regulating autonomic control of cardiovascular function in man.[1]


  1. Cardiovascular dysautonomia in fatal familial insomnia. Cortelli, P., Parchi, P., Contin, M., Pierangeli, G., Avoni, P., Tinuper, P., Montagna, P., Baruzzi, A., Gambetti, P.L., Lugaresi, E. Clin. Auton. Res. (1991) [Pubmed]
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