Objective: To explore the genetic basis for a patient with autism. Methods: High-throughput sequencing was carried out to detect copy number variations in the patient. Results: DNA sequencing found that the patient has carried a 0.11 Mb deletion in distal 2p16.3 spanning from genomic position 50 820 001 to 50 922 000, which resulted removal of exon 6 and part of intron 7 of the NRXN1 gene. The same deletion was not found his parents and brother. Conclusion Partial deletion of the NRXN1 gene may underlie the disease in this patient.

Objective To observe the glymphatic system functional changes of bilateral cerebral hemispheres in early-stage Parkinson disease(PD)patients complicated with unilateral limb motor symptoms.Methods A total of 52 early-stage PD patients complicated with unilateral limb motor symptoms were prospectively enrolled,including 21 cases of left-onset PD(LPD group),31 cases of right-onset PD(RPD group).Meanwhile,28 healthy individuals were recruited as healthy controls(HC group).Clinical data and indices of diffusion tensor imaging analysis along the perivascular space(DTI-ALPS)were compared among 3 groups and between each 2 groups.The correlations of DTI-ALPS indices and clinical scales were analyzed.Results Significant difference of Hamilton depression scale(HAMD)score was found among 3 groups(P＜0.05).HAMD score of LPD group and RPD group were higher than that of HC group(both P＜0.017).There were significant differences of left and right cerebral hemispheres DTI-ALPS(DTI-ALPS_L,DTI-ALPS_R)indices among 3 groups(both P＜0.05).DTI_ALPS_R in LPD group was lower than that in HC group(P＜0.017),and DTI_ALPS_L in RPD group was lower than that in HC group(P＜0.017).No obvious correlation of bilateral cerebral hemisphere DTI-ALPS indices with clinical scales was detected in PD patients(all P＞0.05).Conclusion Like that of motor symptoms,glymphatic system dysfunction of PD patients had characteristics of laterality,manifested as DTI_ALPS_R decreased in LPD patients while DTI_ALPS_L decreased in RPD patients.

Objective To investigate the prevalence of cognitive and motor disorders as well as emotional and sleep abnormality in the veterans from military communities in Beijing. Methods The participants underwent a comprehensive in-person evaluation including detailed neuropsychological testing,Hospital Anxiety and Depression Scale and special questionnaires for movement and sleep disorders. Results The overall prevalence of cognitive impairment, extrapyramidal diseases was 32.7%, 8.8% . The prevalence of mild cognitive impairment, dementia, Parkinson disease, essential tremor, anxiety and depression was 26.2% , 6.5% , 2.0% , 6.1 % , 1.4% and 4.1% respectively. Prevalence of all kinds of sleep disorders ranged from 10. 3% to 53. 9%. The prevalence of cognitive impairment had no significant difference of sex, but were correlated to age and education, the correlation coefficient was 0. 326 and -0.221 ( P<0.01) . Conclusion Veterans from military communities had higher prevalence of cognitive impairment, extrapyramidal diseases and sleep disorders and lower that of anxiety and depression relatively.

OBJECTIVE: To explore the genetic basis for a patient with autism. METHODS: High-throughput sequencing was carried out to detect copy number variations in the patient. RESULTS: DNA sequencing found that the patient has carried a 0.11 Mb deletion in distal 2p16.3 spanning from genomic position 50 820 001 to 50 922 000, which resulted removal of exon 6 and part of intron 7 of the NRXN1 gene. The same deletion was not found his parents and brother. CONCLUSION Partial deletion of the NRXN1 gene may underlie the disease in this patient.
Autistic Disorder ; genetics ; Cell Adhesion Molecules, Neuronal ; genetics ; DNA Copy Number Variations ; Gene Deletion ; Humans ; Male ; Nerve Tissue Proteins ; genetics