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Background: A large hexanucleotide repeat expansion in C9orf72 has been identified as the most common genetic cause in familial amyotrophic lateral sclerosis and frontotemporal dementia. Rapid Eye Movement Sleep Behavior Disorder (RBD) is a sleep disorder that has been strongly linked to synuclein-mediated neurodegeneration. The aim of this study was to evaluate the role of the C9orf72 expansions in the pathogenesis of RBD. Methods: We amplified the C9orf72 repeat expansion in 344 patients with RBD by a repeat-primed polymerase chain reaction assay. Results: We identified two RBD patients carrying the C9orf72 repeat expansion. Most interestingly, these patients have the same C9orf72 associated-risk haplotype identified in 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia families. Conclusions: Our study enlarges the phenotypic spectrum associated with the C9orf72 hexanucleotide repeat expansions and suggests that, although rare, this expansion may play a role in the pathogenesis of RBD.
This chapter presents the methodology, normative data, results from clinical populations and problems associated with the objective measures of sleepiness. The multiple sleep latency test (MSLT) is used in the diagnosis of narcolepsy and the hypersomnias. The maintenance of wakefulness test (MWT) has been used by the FAA and state departments of transportation as a means of screening pilots and commercial drivers for ability to maintain alertness in sedentary work settings. Less research supports the Oxford Sleepiness Resistance (OSLER) and pupillography tests, but the OSLER, which attempts to measure sleep onset without traditional measurement of either performance or EEG, holds promise as a simpler but still time-consuming measure. The tests measure more than a single sleep system and almost certainly reflect the summation of numerous sources of state and trait arousal in addition to the effects of circadian time, prior wakefulness and numerous underlying sleep and arousal pathologies.