STUDY OBJECTIVES:The relationship of iron with cognitive and motor impairment in idiopathic rapid eye movement sleep behavior disorder (iRBD) remains unknown. METHODS:Twenty-nine (29) patients and 28 healthy controls (HCs) underwent susceptibility weighted imaging and susceptibility mapping. These images were used to evaluate the nigrosome-1 (N1) sign in the substantia nigra (SN), global and regional high-iron (RII) content, and volume of subcortical nuclei. RESULTS:The number of iRBD patients with N1 loss (12) was significantly higher than HCs (2) (p = 0.005). Compared with HCs, the iRBD patients had reduced volume of the right caudate nucleus (RCN) (p < 0.05, false discovery rate [FDR] correction) but no significant changes in global and RII iron of the subcortical nuclei (all p > 0.05, FDR correction). Multiple regression analysis revealed that: for cognitive function, the RII iron of the RCN was significantly correlated with visuospatial function and the global iron of the right dentate nucleus (RDN) was correlated with memory function; for motor function, the RII iron of the left DN (LDN) and global iron of the left CN correlated with the Alternate-Tap test (left, average), the global iron of the LDN correlated with the Alternate-Tap test (right), and the global iron of the left GP correlated with the 3-m Timed Up and Go test (all p < 0.05, FDR correction). CONCLUSIONS:Our exploratory analysis found that iRBD patients had a higher incidence of N1 loss and reduced RCN volume after FDR correction. Cognitive and motor impairment were associated with iron deposition in several cerebral nuclei after FDR correction.

Objective To evaluate the objective sleep status of patients with chronic insomnia by cardiopulmonary coupling (CPC) technique, and evaluate the characteristics of cognitive dysfunction to explore the correlation between objective sleep and cognitive dysfunction in patients with chronic insomnia. Methods Forty-three patients with chronic insomnia, admitted to our hospital from October 2017 to April 2019, were enrolled in our study;15 age-, gender-and education-matched healthy volunteers were recruited as control group. All subjects followed their daily routine at home and completed CPC examination. Montreal Cognitive Assessment (MoCA), Auditory Vocabulary Learning Test (AVLT), Trail Making Test (TMT) and Stroop Color Word Test were used to evaluate the general and single cognitive functions, respectively. The correlation of objective sleep with cognitive function was analyzed. Results (1) As compared with those in the control group, high frequency coupling (stable sleep) ratio was significantly decreased, low frequency coupling (un-stable sleep) ratio and extremely low frequency coupling (rapid-eye-movement sleep/waking) ratio were significantly increased, and latency of high frequency coupling was significantly prolonged in chronic insomnia group (P<0.05). (2) Chronic insomnia group had significantly lower MoCA total scores than control group (P<0.05), specifically manifested as decrement of visuospatial ability and execution and attention abilities; specific cognitive test showed that chronic insomnia group performed worse in immediate recall, and had delayed recall of AVLT, longer time consumption in TMT-B, smaller number of wired arrival numbers, and longer time consumption in Stroop color word test than the control group, with significant differences (P<0.05). (3) There was a correlation between CPC sleep structure and Cognitive Function Scale scores in patients with chronic insomnia. Conclusion In patients with chronic insomnia, stable sleep is reduced, un-stable sleep and rapid-eye-movement sleep/waking are increased; the impaired cognition domains are visual space and executive function, attention and memory; disturbed sleep structure aggravates the memory and execution impairment of patients with chronic insomnia.

To compare the sleep characteristics and cognition between rapid eye movement sleep behavior disorder (RBD) patients and non‐RBD (nRBD) healthy control subjects and to determine the correlation between sleep and cognition in RBD patients.

Objective To evaluate the neuropsychological performance of RBD patients and its correlations with ob-jective sleep parameters. Methods Twenty-two RBD patients diagnosed by video-polysomnography( v-PSG) in neurology clinic of TianJin Medical University General Hospital and Twenty-three healthy gender,age and education-level matched subjects were enrolled. Subjects underwent neuropsychological tests,including mini-mental state examination(MMSE),Au-ditory verbal learning test(AVLT),Rey Complex Figure Test(RCFT),Clock Drawing Test(CDT),Symbol digit modalities test(SDMT),Trail Making Test A and B(TMT A and TMT B),Stroop test A,B and C,Animal fluency test(AFT),City flu-ency test(CFT),Animal-City fluency test,Boston naming test(BNT). Neuropsychological performance and objective sleep parameters were compared between the two groups,correlations between neuropsychological performance and objective sleep parameters in RBD group were analysed. Results Compared with the control group, RBD patients performed worse in MMSE,immediate memory,short and long delay recall of AVLT,time of RCFT,TMT A,TMT B,Stroop A,Stroop B,Stroop C with significant difference(P<0. 05);the mean percentage of NREM-I sleep increased,NREN-II and NREM-III sleep decreased,periodic leg movement index increased in RBD patients. Furthermore,lower sleep efficiency was correlated with decreased SDMT score(r=0. 491,P=0. 020),CFT score(r=0. 436,P=0. 043) and more time of TMT A(r= -0. 654,P=0. 001),lower total sleep time was correlated with less RCFT and BNT score(r=0. 600,P=0. 003;r =0. 482,P =0. 023),more time of TMT A(r= -0. 573,P=0. 005) in RBD patients. Conclusions RBD patients exhibited declined cognition,impaired multi-domain neuropsychological performance including vebral learning memory,exeuctive and visuospa-tial ability,disturbed objective sleep architecture,increased periodic leg movement index. Decreased total sleep time and sleep efficiency may contribute to neuropsychological performance deterioration in RBD patients.

Juvenile myoclonic epilepsy (JME) is a sleep-related epilepsy syndrome, and only a few studies have addressed the relationship between JME and sleep disorders. In this review, the sleep characteristics of patients with JME were summarized based on the features of circadian rhythm, the possible cause of the early morning seizures, the common subjective and objective sleep disorders, the alterations in sleep architecture, and the effect of sleep deprivation and sodium valproate (VPA). The aims of this study were to summarize the interaction between JME and sleep, to reveal JME sleep characteristics, to encourage clinicians to focus on JME and sleep, to heighten the positive diagnosis rate, to guide the treatment, to improve the prognosis, and to enhance the daily life quality of patients with JME. At the same time, this study aimed to present existing controversies, in order to necessitate further studies.

Objective To do genetic diagnosis in a central core disease (CCD) (autosomal dominant disease) family.Find out the pathogenesis of CCD and the association between genotypes and phenotypes in this family.Methods Family history investigation,pedigree analysis and clinical examination were performed.Clinical data were collected and genomic DNA was extracted from the blood samples of the family members.Polymerase chain reaction method was used to amplified C-terminal domain (exon 90 ～ 104) region of the RYR1 gene.The amplified products were sequenced and analyzed.Results A point mutation (c.14690G ＞ A) was detected in the proband,her mother and sister,while it is not found in the healthy members and 50 controls.This mutation leads to an amino acid change,e.g.G4897D.Conclusion The mutation (14690G ＞ A) was the main cause in this CCD family.And this mutation may present different clinical phenotypes and pathologic changes.