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Published on: August 8, 2019
Familial advanced sleep phase syndrome.
K J Reid1, A M Chang, M L Dubocovich
1Department of Neurobiology and Physiology, Northwestern University, Hogan Hall 2-160, 2153 N Campus Dr, Evanston, IL 60208, USA. k-reid@northwestern.edu
Archives of Neurology
|August 2, 2001
Summary
This study found that advanced sleep phase syndrome (ASPS) in a large family follows an autosomal dominant inheritance pattern. This suggests a genetic basis for human circadian rhythm regulation, impacting sleep patterns.
Area of Science:
- Chronobiology
- Human Genetics
- Sleep Medicine
Background:
- Circadian rhythms, regulated by the suprachiasmatic nucleus, govern sleep propensity and melatonin secretion.
- Sleep-wake cycle phase disorders, including advanced sleep phase syndrome (ASPS), arise from circadian clock alterations.
- ASPS is characterized by early sleep onset and awakening; extreme cases are rare, but the complaint of early awakening is common in older adults.
Purpose of the Study:
- To conduct a phenotypic characterization of a familial case of advanced sleep phase syndrome (ASPS).
Main Methods:
- A large family with ASPS was identified, with 32 members providing informed consent.
- Sleep onset/offset, dim light melatonin onset, morningness-eveningness questionnaire, and clinical interviews were used for characterization.
- Family members were classified as affected or unaffected with ASPS based on collected data.
Main Results:
- Affected family members self-identified as "morning types" with significantly earlier sleep onset (P<.001) and offset (P=.006) times.
- Mean sleep onset was 21:21 for affected vs. 00:25 for unaffected; mean sleep offset was 05:07 for affected vs. 08:28 for unaffected.
- The circadian rhythm of melatonin onset was, on average, 3.5 hours earlier in affected individuals compared to unaffected ones.
Conclusions:
- The ASPS trait demonstrates an autosomal dominant mode of inheritance within the studied family.
- Familial ASPS occurrence highlights the genetic regulation of human circadian rhythms, mirroring findings in animal models.
- Investigating familial sleep and circadian rhythm disorders is crucial for identifying specific genes controlling human sleep and circadian functions.
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