Brainstem Sparing in Human Prion Disease: Sleep and Autonomic Function in a Long Survival Case Report
|Alessandro Pincherle1,2*, Eleonora Tobaldini3, Lucio Mos3, Ambra Dominese2, Vincenzo Patruno4, Nicola Montano3, Flavio Villani2, Fabrizio Tagliavini2, Giorgio Giaccone2 and Gabriella Marcon2-6|
|1Neurology Unit, Spitalzentrum Biel, Biel, Switzerland|
|2Fondazione IRCCS Istituto Neurologico “Carlo Besta”, Milan, Italy|
|3Department of Biomedical and Clinical Sciences “L. Sacco”, Medicine and Physiopathology Unit, L. Sacco Hospital, University of Milan, Italy|
|4Department of Cardiology, San Daniele del Friuli Hospital, Udine, Italy|
|5Pneumologia Riabilitativa, Istituto di Medicina Fisica e Riabilitazione “Gervasutta”, Udine, Italy|
|6Department of Biological and Medical Sciences (DSMB), University of Udine, Italy|
|*Corresponding Author :||Alessandro Pincherle
Spitalzentrum Biel Biel, Switzerland
E-mail: [email protected]
|Received: February 05, 2016 Accepted: February 18, 2016 Published: February 26, 2016|
|Citation: Pincherle A, Tobaldini E, Mos L, Dominese A, Patruno V, et al. (2016) Brainstem Sparing in Human Prion Disease: Sleep and Autonomic Function in a Long Survival Case Report. J Sleep Disord Ther 5:236. doi:10.4172/2167-0277.1000236|
|Copyright: © 2016 Pincherle A, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.|
Background: The prion diseases are characterized by sleep disruption, with FFI typically characterized also by severe autonomic dysfunction and sympathetic hyperactivity. We report the results of an extensive neurophysiological and autonomic assessment in a CJD patient carrying the D178 mutation with the uncommon homozygosity for valine at codon 129, mutation with long disease duration.
Results: A 47years old female presented with a memory impairment followed by progressive cognitive deficits and ataxia. The clinical picture slowly worsened to a state of akinetic mutism in about 2 years, and the patient died six years after the onset of symptoms. Repeated PSG and long-term actigraphic recordings, showed a peculiar, previously undescribed, pattern characterized by conservation of a rudimental circadian and ultradian rhythm, despite dramatic sleep micro-structure deterioration. We also observed a normal autonomic physiological response to orthostatic challenge and normal dynamic autonomic modulation during wake and sleep. The post-mortem brain pathology study, showed that neuronal loss was substantial in the cerebral cortex, diencephalon and thalami, but not in brainstem nuclei.
Conclusions: We hypothesize that, despite a dramatic neurological picture (i.e. akinetic mutism) and a severe sleep micro-structural alteration, the persistence of an autonomic modulation and the persistence of a rudimental circadian and ultradian oscillation, are related to the relatively conserved anatomo-functional integrity of foundamental neuronal systems in the brainstem.