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'Advanced sleep phase syndrome' ('ASPS') is a sleep disorder in which patients feel very sleepy early in the evening (e.g. 18:00-19:00) and wake up very early in the night (e.g. midnight, 1:00, etc.).
It is the opposite of delayed sleep phase syndrome.
ASPS is frequently encountered in the elderly and in post-menopausal women. It can be treated pharmacologically, with evening bright lights, or behaviorally with chronotherapy or free-running sleep.

Contents

Familial advanced sleep phase syndrome (FASPS)

See also

References

Familial advanced sleep phase syndrome (FASPS)

In 1999, Louis Ptáček’s research group at the University of California, San Francisco reported findings of a human circadian rhythm disorder showing a familial tendency. The disorder was characterized by a life-long pattern of sleep onset around 7:30pm and offset around 4:30am. Among three lineages, 29 people were identified as affected with this familial advanced sleep-phase syndrome (FASPS), and 46 were considered unaffected. The pedigrees demonstrated FASPS to be a highly penetrant, autosomal dominant trait.^[1]
Two years after reporting the finding of FASPS, Ptáček’s group published results of genetic sequencing analysis on a family with FASPS. To narrow their search they took a cue from research on Per mutations in Drosophila^[2] and mouse^[3] models, which produced short-day mutants and were predicted to produce a phase advance in humans.^[4] With this guidance they quickly found what they were looking for. Sequencing of the hPer2 gene revealed a serine-to-glycine point mutation in the CK1ε binding domain of the hPER2 protein.^[5]
In 2005, Ptáček’s lab reported discovery of a different mutation causing FASPS. This time the CK1δ was implicated, demonstrating an A-to-G missense mutation that resulted in a threonine-to-alanine alteration in the protein.^[6] The evidence for both of these reported causes of FASPS is strengthened by the absence of said mutations in all tested control subjects.⁵⁶

See also

★ Circadian rhythm sleep disorder

★ Delayed sleep phase syndrome

★ Non-24-hour sleep-wake syndrome

References

1. Familial advanced sleep-phase syndrome: A short-period circadian rhythm variant in humans, , Christopher R., Jones, Nature Medicine,
2. Clock mutants of Drosophila melanogaster, , Ronald J., Konopka, Proceedings of the National Academy of Sciences,
3. The mPer2 gene encodes a functional component of the mammalian circadian clock, , Binhai, Zehng, Nature,
4. Simulations of light effects on the human circadian pacemaker: implications for assessment of intrinsic period, , E. B., Klerman, American Journal of Physiology,
5. An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome, , Kong L., Toh, Science,
6. Functional consequences of a CKIδ mutation causing familial advanced sleep phase syndrome, , Ying, Xu, Nature,