• Annals of Clinical Neurophysiology
• /
• v.10 no.2
• /
• pp.98-100
• /
• 2008

Restless legs syndrome (RLS) is a sensorimotor neurological disorder in which the primary symptom is a compelling urge to move the legs, accompanied by unpleasant and disturbing sensations in the legs. Although pathophysiologic mechanism of RLS is still unclear, several evidences suggest that RLS is related to dysfunction in central nervous system involving brain and spinal cord. L-DOPA, as the precursor of dopamine, as well as dopamine agonists, plays an essential role in the treatment of RLS leading to the assumption of a key role of dopamine function in the pathophysiology of RLS. Patients with RLS have lower levels of dopamine in the substantia nigra and respond to iron administration. Iron, as a cofactor in dopamine production, plays a central role in the etiology of RLS. Functional neuroimaging studies using PET and SPECT support a central striatal D2 receptor abnormality in the pathophysiology of RLS. Functional MRI suggested a central generator of periodic limb movements during sleep (PLMs) in RLS. However, to date, we have no direct evidence of pathogenic mechanisms of RLS.

• Sleep Medicine and Psychophysiology
• /
• v.7 no.2
• /
• pp.115-119
• /
• 2000

Objectives Summary: A 20-year-old man was presented with a history of difficult waking for 10 years. He suffered from morning headache, chronic fatigue and mild daytime sleepiness but had no history of irresistible sleep attack, cataplexy, hypnagogic hallucination or sleep paralysis. Methods: Night polysomnography (PSG), multiple sleep latency test (MSLT) and HLA-typing were carried out. Results: The PSG showed short sleep latency (4.0 min) and REM latency (2.5 min), increased arousal index (15.7/hour), periodic limb movements during sleep (PLMS index=8.1/hr) with movement arousal index 2.1/hr and normal sleep efficiency (97.5%). The MSLT revealed normal sleep latency (15 min 21 sec) and 4 times sleep-onset REM (SOREM). HLA-typing showed DQ6- positive, that corresponded at the genomic level to the subregion DQB1*0601, which was different from the usual locus in narcolepsy patients (DQB1*0602 and DQA1*0102). Conclusion: Differential diagnosis should be made with circadian rhythm disorder and other causes of primary waking disorder. The possibility of a variant type of narcolepsy could be suggested with an unusual clinical manifestation and a new genetic marker.

• Sleep Medicine and Psychophysiology
• /
• v.8 no.2
• /
• pp.107-112
• /
• 2001

Introduction: Narcolepsy, a sleep disorder characterized by excessive daytime sleepiness and cataplexy, is known to be closely associated with the human leukocyte antigen (HLA) DQB1*0602. Several studies have suggested that HLA-DQB1*0602 is strongly linked with narcolepsy-cataplexy. However, no studies have yet been made on whether HLA DQB1*0602 is associated with Korean patients with narcolepsy. This study was designed to investigate the frequency of HLA-DQB1*0602 of Korean patients with narcolepsy. Methods: Twenty patients were selected (mean age: $28.2{\pm}3.0$, 11 men and 9 women). The patients were confirmed to have narcolepsy by the overnight polysomnography and multiple sleep latency test (MSLT) in addition to their clinical history and symptoms at St. Vincent's Hospital and Korea University Hospital Sleep Disorders Clinic. Any subjects co-morbid with other hypersomnic sleep disorders such as sleep apnea or periodic limb movements during sleep were excluded. Clinical data was collected through a semi-structured interview for narcoleptic patients. All patients and 21 control did HLA typing for the presence of DQB1*0602. Results Obtained were as Follows: 1) Mean sleep latency was 2.4 (${\pm}2.0$ minutes) and mean frequency of sleep-onset REM period was 3.0 (${\pm}1.6$) by MSLT. 2) Characteristic symptoms of narcolepsy investigated were as follows: excessive daytime sleepiness (100%), cataplexy (100%), sleep paralysis (60%), hypnagogic hallucination (70%) and disrupted nocturnal sleep (75%). 3) Strong emotional expression such as laughing (80%) and joking (70%) triggered cataplexy which affects the knee and leg region (80%) and jaw region (30%). 4) HLA-DR2 was found in 90% of patients and 35% in controls. The frequency of HLA-DQB1*0602 in patients and controls was 90%, and 24%, respectively. Conclusions: These results, which exhibit high HLA-DQB1*0602 expression in Korean patients with narcolepsy, suggest that HLADQB1*0602 could be a strong genetic marker in narcolepsy.

• Tuberculosis and Respiratory Diseases
• /
• v.62 no.5
• /
• pp.382-388
• /
• 2007

Background: The cognitive function is impaired in patients with hypoxemic chronic obstructive pulmonary disease (COPD). However, there are conflicting results regarding the cognitive function in patients with non-hypoxemic COPD. COPD patients also have sleep disorders. This study examined the cognitive function in non-hypoxemic COPD patients, and nocturnal sleep was assessed in COPD patients with a cognitive dysfunction. Methods: Twenty-eight COPD patients (mean age, 70.7 years) with an oxygen saturation > 90%, and 33 healthy control subjects (mean age, 69.5 years) who had visited for a routine check-up were selected. The neurocognitive tests were performed using the Korean version of the Consortium to Establish a Registry for Alzheimer's Disease (CERAD-K) Neuropsychological Battery. Results: The scores of the word list recall test (p=0.03) and the word list recognition test (p=0.006) in the COPD group were significantly lower than those in the control group. Nine patients showed a significantly impaired cognitive function. Seven of these underwent polysomnography, which revealed apnea-hypopnea indices ${\geq}$ five per hour in five patients. The median oxygen desaturation index and median limb movement index were 3.6/h and 38.6/h, respectively. Conclusion: These results suggest that the verbal memory function is impaired in non-hypoxemic COPD patients. Six out of seven COPD patients with an impaired cognitive function had sleep disorders of sleep apnea and/or periodic limb movements during sleep.