Brainstem Sparing in Human Prion Disease: Sleep and Autonomic Function in a Long Survival Case Report
Autor: | Eleonora Tobaldini, Lucio Mos, Ambra Dominese, ro Pincherle, Vincenzo Patruno, Fabrizio Tagliavini, Aless, Nicola Montano, Gabriella Marcon, Giorgio Giaccone, Flavio Villani |
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Jazyk: | angličtina |
Rok vydání: | 2016 |
Předmět: |
0301 basic medicine
Ataxia Akinetic mutism Cardiovascular 03 medical and health sciences Orthostatic vital signs 0302 clinical medicine Medicine Circadian rhythm Ultradian rhythm business.industry Prion Sleep Autonomic Actigraphy Brainstem medicine.disease Sleep in non-human animals 030104 developmental biology medicine.symptom business Neuroscience 030217 neurology & neurosurgery |
Popis: | 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. |
Databáze: | OpenAIRE |
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