Sleep architecture and sleep-disordered breathing in fatal insomnia

Fatal insomnia (FI) is a rare prion disease severely affecting sleep architecture. Breathing during sleep has not been systematically assessed. Our aim was to characterize the sleep architecture, respiratory patterns, and neuropathologic findings in FI. Eleven consecutive FI patients (ten familial,...

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Bibliographic Details
Published in:Sleep medicine 2022-12, Vol.100, p.311-346
Main Authors: Pérez-Carbonell, Laura, Muñoz-Lopetegi, Amaia, Sánchez-Valle, Raquel, Gelpi, Ellen, Farré, Ramon, Gaig, Carles, Iranzo, Alex, Santamaria, Joan
Format: Article
Language:English
Subjects:
Catathrenia
Central sleep apnea
Fatal familial insomnia
Fatal insomnia
Humans
Neuropathology
Polysomnography
Prion diseases
REM sleep Without atonia
Respiratory rate variability
Sleep
Sleep Apnea Syndromes
Sleep Initiation and Maintenance Disorders
Sleep, REM
Stridor
Undifferentiated NREM sleep
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Summary:Fatal insomnia (FI) is a rare prion disease severely affecting sleep architecture. Breathing during sleep has not been systematically assessed. Our aim was to characterize the sleep architecture, respiratory patterns, and neuropathologic findings in FI. Eleven consecutive FI patients (ten familial, one sporadic) were examined with video-polysomnography (vPSG) between 2002 and 2017. Wake/sleep stages and respiration were evaluated using a modified scoring system. Postmortem neuropathology was assessed in seven patients. Median age at onset was 48 years and survival after vPSG was 1 year. All patients had different combinations of breathing disturbances including increased respiratory rate variability (RRV; n = 7), stridor (n = 9), central sleep apnea (CSA) (n = 5), hiccup (n = 6), catathrenia (n = 7), and other expiratory sounds (n = 10). RRV in NREM sleep correlated with ambiguous and solitary nuclei degeneration (r = 0.9, p = 0.008) and reduced survival (r = −0.7, p = 0.037). Two new stages, Subwake1 and Subwake2, present in all patients, were characterized. NREM sleep (conventional or undifferentiated) was identifiable in ten patients but reduced in duration in eight. REM sleep occurred in short segments in nine patients, and their reduced duration correlated with medullary raphe nuclei degeneration (r = −0.9, p = 0.005). Seven patients had REM without atonia. Three vPSG patterns were identified: agitated, with aperiodic, manipulative, and finalistic movements (n = 4); quiet-apneic, with CSA (n = 4); and quiet-non-apneic (n = 3). FI patients show frequent breathing alterations, associated with respiratory nuclei damage, and, in addition to NREM sleep distortion, have severe impairment of REM sleep, related with raphe nuclei degeneration. Brainstem impairment is crucial in FI. •Breathing alterations are frequent and relate with medullar neuropathology in fatal insomnia.•Central apnea, increased respiratory rate variability, stridor, hiccups, and catathrenia occur.•New sleep/wake stages (subwake and undifferentiated NREM sleep) can be recognized.•Short REM sleep episodes, without atonia, relate with greater raphe nuclei degeneration.•Brainstem impairment, in addition to thalamic degeneration, is crucial in fatal insomnia.
ISSN:1389-9457
1878-5506
DOI:10.1016/j.sleep.2022.08.027