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Familial Advanced Sleep Phase Syndrome
Kathryn J. Reid, PhD;
Anne-Marie Chang, BS, BA;
Margarita L. Dubocovich, PhD;
Fred W. Turek, PhD;
Joseph S. Takahashi, PhD;
Phyllis C. Zee, MD, PhD
Arch Neurol. 2001;58:1089-1094.
Background The circadian rhythms of sleep propensity and melatonin secretion are
regulated by a central circadian clock, the suprachiasmatic nucleus of the
hypothalamus. The most common types of sleep disorders attributed to an alteration
of the circadian clock system are the sleep/wake cycle phase disorders, such
as delayed sleep phase syndrome and advanced sleep phase syndrome (ASPS).
Advanced sleep phase syndrome is characterized by the complaint of persistent
early evening sleep onset and early morning awakening. Although the complaint
of awakening earlier than desired is relatively common, particularly in older
adults, extreme advance of sleep phase is rare.
Objective To phenotypically characterize a familial case of ASPS.
Methods We identified a large family with ASPS; 32 members of this family gave
informed consent to participate in this study. Measures of sleep onset and
offset, dim light melatonin onset, the Horne-Ostberg morningness-eveningness
questionnaire, and clinical interviews were used to characterize family members
as affected or unaffected with ASPS.
Results Affected members rated themselves as "morning types" and had a significant
advance in the phase of sleep onset (P<.001) and
offset (P = .006) times. The mean sleep onset was
2121 hours for the affected family members and 0025 hours for the unaffected
family members. The mean sleep offset was 0507 hours for the affected members
and 0828 hours for the unaffected members. (Times are given in military form.)
In addition, the phase of the circadian rhythm of melatonin onset for the
affected family members was on average 3 hours earlier than for the
unaffected members.
Conclusions 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.
From the Departments of Neurobiology and Physiology (Drs Reid, Turek,
and Takahashi and Ms Chang) and Molecular Pharmacology and Biological Chemistry
(Dr Dubocovich), the Transportation Center (Dr Reid), the Center for Circadian
Biology and Medicine (Drs Reid, Turek, Takahashi, and Zee), and the Howard
Hughes Medical Institute (Dr Takahashi), Northwestern University; and the
Department of Neurology, Northwestern University Medical School (Dr Zee),
Chicago, Ill.
Corresponding author and reprints: Kathryn J. Reid, PhD, Department
of Neurobiology and Physiology, Northwestern University, Hogan Hall 2-160,
2153 N Campus Dr, Evanston, IL 60208 (e-mail: k-reid{at}northwestern.edu).
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