Familial Advanced Sleep Phase Syndrome

Abstract

The ASPS trait segregates with an autosomal dominant mode of inheritance. The occurrence of familial ASPS indicates that human circadian rhythms, similar to those in animals, are under genetic regulation. Genetic analysis of familial sleep and circadian rhythm disorders is important for identifying a specific gene(s) responsible for the regulation of sleep and circadian rhythms in humans.

Invited Review: Integration of human sleep-wake regulation and circadian rhythmicity

“…The timing of sleep and circadian rhythms of temperature and melatonin in individuals suffering from familial forms of ASPS has been described. As may be expected, the timing of both sleep and endogenous circadian rhythms was advanced by as much as 4 h (55,84). The internal phase relationships between sleep and the circadian rhythms of melatonin and temperature appeared normal in these patients.…”

Invited Review: Integration of human sleep-wake regulation and circadian rhythmicity

“…The timing of sleep and circadian rhythms of temperature and melatonin in individuals suffering from familial forms of ASPS has been described. As may be expected, the timing of both sleep and endogenous circadian rhythms was advanced by as much as 4 h (55,84). The internal phase relationships between sleep and the circadian rhythms of melatonin and temperature appeared normal in these patients.…”

Virtual discovery of melatonin receptor ligands to modulate circadian rhythms

“…Third , these are the first MT 1 -selective inverse agonists active in vivo , with efficacy at doses as low as 0.9 μg/mouse in circadian phase shift. Their efficacy in modulating time-dependent circadian entrainment supports their potential as leads towards therapeutics in conditions and diseases affected by alterations in phase 5 – 7 , 43 .…”

Circadian Phase and Phase Angle Disorders in Primary Insomnia

“…Self-reported morningness-eveningness preference is correlated with circadian phase in patients with ASWPD and DSWPD, where patients' sleep timing is typically very early or very late, making it easier to recognize in clinical practice. 43,44 Our observation that the cohort of patients with modest circadian misalignment do not appear to shift their sleep timing in a consistent manner relative to their DLMO time suggests that such modest circadian phase abnormalities in insomnia may be more difficult for a clinician to detect. This combination of factors makes it likely that modest circadian abnormalities are widely underestimated in clinical practice.…”

Invited Review: Integration of human sleep-wake regulation and circadian rhythmicity

“…The timing of sleep and circadian rhythms of temperature and melatonin in individuals suffering from familial forms of ASPS has been described. As may be expected, the timing of both sleep and endogenous circadian rhythms was advanced by as much as 4 h (55,84). The internal phase relationships between sleep and the circadian rhythms of melatonin and temperature appeared normal in these patients.…”

Virtual discovery of melatonin receptor ligands to modulate circadian rhythms

“…Third , these are the first MT 1 -selective inverse agonists active in vivo , with efficacy at doses as low as 0.9 μg/mouse in circadian phase shift. Their efficacy in modulating time-dependent circadian entrainment supports their potential as leads towards therapeutics in conditions and diseases affected by alterations in phase 5 – 7 , 43 .…”

Circadian Phase and Phase Angle Disorders in Primary Insomnia

“…Self-reported morningness-eveningness preference is correlated with circadian phase in patients with ASWPD and DSWPD, where patients' sleep timing is typically very early or very late, making it easier to recognize in clinical practice. 43,44 Our observation that the cohort of patients with modest circadian misalignment do not appear to shift their sleep timing in a consistent manner relative to their DLMO time suggests that such modest circadian phase abnormalities in insomnia may be more difficult for a clinician to detect. This combination of factors makes it likely that modest circadian abnormalities are widely underestimated in clinical practice.…”

Invited Review: Integration of human sleep-wake regulation and circadian rhythmicity

“…The timing of sleep and circadian rhythms of temperature and melatonin in individuals suffering from familial forms of ASPS has been described. As may be expected, the timing of both sleep and endogenous circadian rhythms was advanced by as much as 4 h (55,84). The internal phase relationships between sleep and the circadian rhythms of melatonin and temperature appeared normal in these patients.…”

Virtual discovery of melatonin receptor ligands to modulate circadian rhythms

“…Third , these are the first MT 1 -selective inverse agonists active in vivo , with efficacy at doses as low as 0.9 μg/mouse in circadian phase shift. Their efficacy in modulating time-dependent circadian entrainment supports their potential as leads towards therapeutics in conditions and diseases affected by alterations in phase 5 – 7 , 43 .…”

Circadian Phase and Phase Angle Disorders in Primary Insomnia

“…Self-reported morningness-eveningness preference is correlated with circadian phase in patients with ASWPD and DSWPD, where patients' sleep timing is typically very early or very late, making it easier to recognize in clinical practice. 43,44 Our observation that the cohort of patients with modest circadian misalignment do not appear to shift their sleep timing in a consistent manner relative to their DLMO time suggests that such modest circadian phase abnormalities in insomnia may be more difficult for a clinician to detect. This combination of factors makes it likely that modest circadian abnormalities are widely underestimated in clinical practice.…”