ABSTRACT
The prevalence of sleep disorder is about 30% of the population. Common sleep disorders are insomnia, obstructive sleep apnea, narcolepsy, restless legs syndrome, rapid eye movement sleep behavior disorder and parasomnia. These sleep disorders lead various medical and mental complications. However, most sleep disorders are underdiagnosed and not treated appropriately. Sleep medicine is important for treating these sleep disorders and maintaining general healthy conditions. Specialized and comprehensive treatments for sleep disorder are important in sleep medicine.
Subject(s)
Narcolepsy , Parasomnias , Prevalence , REM Sleep Behavior Disorder , Restless Legs Syndrome , Sleep Apnea, Obstructive , Sleep Wake Disorders , Sleep Initiation and Maintenance DisordersABSTRACT
Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) gene is known to be associated with different clinical phenotypes; Silver syndrome, Charcot-Marie-Tooth type 2 with a dominant hand involvement and distal hereditary motor neuropathy type V (dHMN-V). Up to now, only two heterozygous mutations (N88S and S90L) in BSCL2 have been reported. We identified a N88S BSCL2 mutation in a dHMN-V family with a spastic gait by whole-exome sequencing. To our knowledge, this is the first report of a N88S BSCL2 mutation in Korean patient.