Sleep-wake cycle abnormalities in fatal familial insomnia. Evidence of the role of the thalamus in sleep regulation

Sforza, E; Montagna, Pasquale; Tinuper, Paolo; Cortelli, Pietro; Avoni, Patrizia; Ferrillo, Franco; Petersen, Robert B.; Gambetti, Pierluigi; Lugaresi, E

doi:10.1016/0013-4694(94)00318-f

Cited by 82 publications

(39 citation statements)

References 16 publications

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“…The diagnostic importance of polysomnography in FFI noted in our study has been emphasized by other authors. 2,6,12,14 [ 18 F]FDG-PET studies were reported to support FFI diagnosis. 9 Selective thalamic changes were seen on PET in only two of our patients, whereas widespread cortical hypometabolism without clear preference for a particular cortical region was found in five patients.…”

Section: Discussionmentioning

confidence: 99%

Fatal familial insomnia: Clinical features and early identification

Krasnianski

Bartl

Juan

et al. 2008

Annals of Neurology

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Our aim was to develop a detailed clinical description of fatal familial insomnia in a large patient group with respect to the M129V genotype. Data on 41 German fatal familial insomnia patients were analyzed. Clinical features, 14‐3‐3 proteins in the cerebrospinal fluid, magnetic resonance imaging, positron emission tomography, single‐photon emission computed tomography, polysomnography, and electroencephalography were studied. Age at disease onset, disease duration, and clinical syndrome varied depending on the codon 129 genotype. Because the sensitivity of the most diagnostic tests is low in fatal familial insomnia, detailed clinical investigation is extremely important. Polysomnography may help to support the diagnosis. Ann Neurol 2008

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Section: Discussionmentioning

confidence: 99%

Fatal familial insomnia: Clinical features and early identification

Krasnianski

Bartl

Juan

et al. 2008

Annals of Neurology

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“…Cataplexy is associated with conscious wakefulness but atonia related to partial intrusions of REM sleep. Fatal familial insomnia (FFI) associated with thalamic pathology produces marked decreases in total sleep and REM time with the awake state characterized by increased slowing, decreased alpha and deficits in attention and vigilance (Lugaresi, 1992;Sforza et al, 1995). In persistent vegetative state, severe dementia, or minimally conscious states, there may be some preservation of sleep-wake cycles.…”

Section: Sleep-wake Systemsmentioning

confidence: 99%

Vigilance, alertness, or sustained attention: physiological basis and measurement

Oken

Salinsky

Elsas

2006

Clinical Neurophysiology

678

463

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Vigilance is a term with varied definitions but the most common usage is sustained attention or tonic alertness. This usage of vigilance implies both the degree of arousal on the sleep-wake axis and the level of cognitive performance. There are many interacting neural and neurotransmitter systems that affect vigilance. Most studies of vigilance have relied on states where the sleep-wake state is altered, e.g. drowsiness, sleep-deprivation, and CNS-active drugs, but there are factors ranging from psychophysics to motivation that may impact vigilance. While EEG is the most commonly studied physiologic measure of vigilance, various measures of eye movement and of autonomic nervous system activity have also been used. This review paper discusses the underlying neural basis of vigilance and its assessment using physiologic tools. Since, assessment of vigilance requires assessment of cognitive function this aspect is also discussed.

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“…8 Fatal insomnia patients usually suffer from insomnia, motor abnormalities, and altered autonomic functions. 7,8 Polysomnography typically shows reduction of sleep-related EEG activities, such as K-complexes and spindles, 9 and positron emission tomography scans may show focal thalamic hypometabolism. 10 Neuropathologic studies demonstrate prominent lesions in the thalamus relative to other brain regions.…”

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confidence: 99%

Sporadic Fatal Insomnia in an Adolescent

et al. 2014

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The occurrence of sporadic prion disease among adolescents is extremely rare. A prion disease was confirmed in an adolescent with disease onset at 13 years of age. Genetic, neuropathologic, and biochemical analyses of the patient’s autopsy brain tissue were consistent with sporadic fatal insomnia, a type of sporadic prion disease. There was no evidence of an environmental source of infection, and this patient represents the youngest documented case of sporadic prion disease. Although rare, a prion disease diagnosis should not be discounted in adolescents exhibiting neurologic signs. Brain tissue testing is necessary for disease confirmation and is particularly beneficial in cases with an unusual clinical presentation.

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Sleep-wake cycle abnormalities in fatal familial insomnia. Evidence of the role of the thalamus in sleep regulation

Cited by 82 publications

References 16 publications

Fatal familial insomnia: Clinical features and early identification

Fatal familial insomnia: Clinical features and early identification

Vigilance, alertness, or sustained attention: physiological basis and measurement

Sporadic Fatal Insomnia in an Adolescent

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