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The first comprehensive book on the subject, The Genetic Basis of Sleep and Sleep Disorders covers detailed reviews of the general principles of genetics and genetic techniques in the study of sleep and sleep disorders. The book contains sections on the genetics of circadian rhythms, of normal sleep and wake states and of sleep homeostasis. There are also sections discussing the role of genetics in the understanding of insomnias, hypersomnias including narcolepsy, parasomnias and sleep-related movement disorders. The final chapter highlights the use of gene therapy in sleep disorders. Written by genetic experts and sleep specialists from around the world, the book is up to date and geared specifically to the needs of both researchers and clinicians with an interest in sleep medicine. This book will be an invaluable resource for sleep specialists, neurologists, geneticists, psychiatrists and psychologists.
This chapter focuses on the neuroimaging of cataplexy using a case of a 68-year-old woman, who had suffered from narcolepsy since she was 15 years old, as an example. Her mean sleep latency during a multiple sleep latency test was 0.5 minutes, with three sleep onset rapid eye movement (REM) periods among the four naps. The patient underwent two 99mTc-ethylcysteinate dimer brain single-photon emission computed tomography (SPECT) studies during symptomatic and asymptomatic periods of cataplexy on two non-consecutive days. Symptomatic SPECT images were coregistered with asymptomatic images and both images were then co-registered with 3-dimensional magnetic resonance imaging (MRI). The normalized subtracted SPECT and MRI volumes were merged for visual analysis. A characteristic of human REM sleep is right-hemisphere activation, as shown by SPECT imaging and spectral electroencephalographic (EEG) analysis. The right hemisphere is also more activated during cataplexy than the left hemisphere.
Numerous findings of brain structural changes in obstructive sleep apnea (OSA) give strong support to the notion that the disorder does cause brain injury. This chapter describes findings by technique, influences of factors other than the sleep disordered breathing on structural changes in OSA, and a summary of the brain regions shown across multiple studies to be affected in the disorder. Psychological symptoms of depression and anxiety are associated with neural changes in non-OSA populations, so one can hypothesize that the structural changes in OSA would be exacerbated in the presence of these symptoms. Many areas in the brain show structural impairments in OSA, including cortical, limbic, brainstem and cerebellar regions. Neuroimaging methods give numerical measures that are associated with a variety of biological pathologies, and technical limitations due to scanning and analysis issues limit the interpretability of the data.