Abstract
This study aimed to examine clinical features, sleep, abnormal sleep-wake transition and non-sleep disturbances as well as lab tests in Chinese fatal familial insomnia (FFI) subjects. Patients with confirmed clinical and laboratory diagnosis of FFI have been retrospectively reviewed. The clinical features and the results of the complementary tests, including polysomnography (PSG), brain imaging and genetic analysis, were used. Two male and three female patients were recruited in this study. Three of the five patients had more comprehensive family medical records. The most typical clinical manifestations in all 5 patients were sleep disturbances, including insomnia, laryngeal stridor, sleep breath disturbance, and sleep-related involuntary movements. PSG of all these five cases showed reduction in total sleep time, sleep fragmentation, abnormal short non-rapid eye movement - rapid eye movement (REM) cycling, REM sleep reduction or loss, and REM sleep instruction in wakefulness. Patient 2's emission tomography scan demonstrated a reduction in glucose uptake in the left thalamus and bilateral inferior parietal lobe. In summary, Chinese FFI patients are typically characterized by organic sleep related symptoms, rapidly progressive dementia and sympathetic symptoms. We propose that structural damages in the thalamus and cortex are mostly responsible for clinical manifestations of FFI.
Highlights
Fatal familial insomnia (FFI) is a rare prion disease first described by Lugaresi et al, in 19861
This study aims to understand the pathogenesis of sleep related disorders in fatal familial insomnia (FFI)
Increased insomnia and sleep-wake cycle disruption are the clinical hallmarks of FFI
Summary
Fatal familial insomnia (FFI) is a rare prion disease first described by Lugaresi et al, in 19861. FFI is mainly characterized by prominent sleep impairment combined with neuropsychiatric disorders, dysautonomia and motor dysfunction[7]. FFI was characterized by the lack of REM-associated muscle atonia and the presence of jerky activity of limb muscles and irregular breathing[8]. Hypnic jerks, propriospinal myoclonus at the wake-sleep transition, and quasi-purposeful limb gestures are considered to be characteristic features of FFI6, 7. The mechanism and diagnostic value of sleep related respiratory disturbance and movement disorder in FFI have not been studied thoroughly yet. We have analyzed the clinical manifestations and biological changes, especially the sleep related symptoms, PSG and brain imaging results of five Chinese patients diagnosed with FFI. This study aims to understand the pathogenesis of sleep related disorders in FFI
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