Linc00205/Mir-495-3p/Tnfsf15 Axis is Implicated in the Treatment Effect of Hyperbaric Oxygen Therapy on Patients with Post-Stroke Cognitive Impairment.

Introduction: We investigated the effects of hyperbaric oxygen (HBO) therapy on post-stroke cognitive impairment (PSCI) and performed the differential profiling of lncRNAs and mRNA.

Methods: The serum levels of different inflammatory factors were detected in PSCI patients with or without HBO therapy. The cognitive functions of patients in different groups were assessed before and after treatment.

TMEM151A Variants Cause Paroxysmal Kinesigenic Dyskinesia: A Large-Sample Study.

Background: Paroxysmal kinesigenic dyskinesia (PKD) is the most common type of paroxysmal dyskinesias. Only one-third of PKD patients are attributed to proline-rich transmembrane protein 2 (PRRT2) mutations.

Objective: We aimed to explore the potential causative gene for PKD.

Associations of Interleukin 10, Matrix Metallopeptidase 9, and Legumain with Blood Pressure Variability and Neurologic Outcomes in Patients with Ischemic Stroke.

Background: Timely diagnosis and treatment are crucial to improve prognosis of ischemic stroke, making exploring factors associated with prognosis essential. Blood pressure variability (BPV) was reported to be associated with neurologic outcome, and basic researches on cardiovascular diseases found abnormal expression patterns of several factors including interleukin 10 (IL-10), matrix metallopeptidase 9 (MMP-9), and legumain which might be related to abnormal BPV but yet to prove in ischemic stroke. The study aimed to investigate whether IL-10, MMP-9, and legumain are associated with BPV and neurologic outcome of patients with ischemic stroke.

The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China.

Background: Paroxysmal kinesigenic dyskinesia is a spectrum of involuntary dyskinetic disorders with high clinical and genetic heterogeneity. Mutations in proline-rich transmembrane protein 2 have been identified as the major pathogenic factor.

Objectives: We analyzed 600 paroxysmal kinesigenic dyskinesia patients nationwide who were identified by the China Paroxysmal Dyskinesia Collaborative Group to summarize the clinical phenotypes and genetic features of paroxysmal kinesigenic dyskinesia in China and to provide new thoughts on diagnosis and therapy.

Novel SPG11 mutations in Chinese families with hereditary spastic paraplegia with thin corpus callosum.

Background: Hereditary spastic paraplegia is a clinically and genetically heterogeneous neurodegenerative disorder characterized by progressive spasticity of the lower limbs. Mutations in SPG11 gene have been recently identified as a major cause of hereditary spastic paraplegia with thin corpus callosum.

Methods: Two unrelated Chinese families were examined by clinical evaluation, mutation analysis of SPG11, detailed neuropsychological assessment and diffusion tensor imaging.

Association study of SCARB2 rs6812193 polymorphism with Parkinson's disease in Han Chinese.

Recently, a nucleotide polymorphism rs6812193 near SCARB2 was found to be significantly associated with Parkinson's disease (PD) in populations of European ancestry. Herein, we conducted a case-control study with attempt to further evaluate the association between SNP rs6812193 and PD in a Chinese population from mainland China. rs6812193 was genotyped by PCR-RFLP technique in 449 PD patients and 452 controls in a Chinese population.

Vacuolar protein sorting 35 Asp620Asn mutation is rare in the ethnic Chinese population with Parkinson's disease.

Vacuolar protein sorting 35 (VPS35) Asp620Asn mutation has been identified in late-onset familial Parkinson's disease (PD) patients of Swiss and Austrian descent as well as sporadic PD patients in the United States. In order to determine the contribution of VPS35 mutations in mainland Chinese PD patients and to better understand the association between VPS35 and PD, we sequenced all 17 exons of VPS35 in 32 probands of presumed autosomal-dominant, late-onset familial PD and 35 normal controls. Meanwhile, we analyzed VPS35 Asp620Asn mutation in 512 PD patients.

Lingo2 variants associated with essential tremor and Parkinson's disease.

LINGO2, a member of LRR gene family, has been linked with both Essential tremor (ET) and Parkinson's disease (PD). However, there is a lack of conclusive evidence regarding the etiologic role of LINGO2 genetic variants. We investigated the association of LINGO2 variants with ET and PD in two independent Asian countries.