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. 2009 Dec;32(12):1645-8.
doi: 10.1093/sleep/32.12.1645.

Polysomnographic abnormalities in succinic semialdehyde dehydrogenase (SSADH) deficiency

Phillip L Pearl  1 , Sadat Shamim, William H Theodore, K Michael Gibson, Katherine Forester, Susan E Combs, Daniel Lewin, Irene Dustin, Patricia Reeves-Tyer, Cornelis Jakobs, Susumu Sato
Affiliations

Polysomnographic abnormalities in succinic semialdehyde dehydrogenase (SSADH) deficiency

Phillip L Pearl et al. Sleep. 2009 Dec.

Abstract

Objectives: Patients with SSADH deficiency, a disorder of chronically elevated endogenous GABA and GHB, were studied for sleep symptoms and polysomnography. We hypothesized that patients would have excessive daytime somnolence and decreased REM sleep.

Design: Polysomnography and MSLT were performed on patients enrolled for comprehensive clinical studies of SSADH deficiency.

Setting: Sleep studies were obtained in the sleep laboratories at CNMC and NIH.

Patients: Sleep recordings were obtained in 10 patients with confirmed SSADH deficiency.

Interventions: Thirteen overnight polysomnograms were obtained in 10 patients (7 male, 3 female, ages 11-27 y). Eleven MSLT studies were completed in 8 patients.

Measurements and results: Polysomnograms showed prolongation of REM stage latency (mean 272 +/- 89 min) and decreased percent stage REM (mean 8.9%, range 0.3% to 13.8%). Decreased mean sleep latency was present in 6 of 11 MSLTs.

Conclusions: SSADH deficiency is associated with prolonged latency to stage REM and decreased percent stage REM. This disorder represents a model of chronic GABA and GHB accumulation associated with suppression of REM sleep.

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Figures

Figure 1
Figure 1
Biochemical Pathway of GABA Metabolism.
See this image and copyright information in PMC

References

    1. Pearl PL, Novotny EJ, Acosta MT, Jakobs C, Gibson KM. Succinic semialdehyde dehydrogenase deficiency in children and adults. Ann Neurol. 2003;54(suppl 6):S73–S80. - PubMed
    1. Pearl PL, Gibson KM, Quezado Z, et al. Decreased GABA-A binding in succinic semialdehyde dehydrogenase (SSADH) deficiency. Neurol. 2009 in press. - PMC - PubMed
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    1. Novotny EJ, Fulbright RK, Pearl PL, Gibson KM, Rothman DL. Magnetic resonance spectroscopy of neurotransmitters in human brain. Ann Neurol. 2003;54(suppl 6):S25–S31. - PubMed
    1. Snead OC. Evidence for a G protein-coupled gamma-hydroxybutyric acid receptor. J Neurochem. 2000;75:1986–96. - PubMed

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