Objective To investigate the correlation between the alleles polymorphism of CYP2A6 and CYP2B6 and blood concentration of Valproate sodium(VPA).Methods The 165 epilepsy patients received simplex VPA and without dysfunction of liver and kidney were chose in this study.The alleles polymorphism of CYP2A6 in 95 cases and CYP2B6 in 70 cases were detected by polymerase chain reaction(PCR).Fluorescence polarization immunoassay(FPIA) was used to measure the blood concentration of VPA.Results The frequence of allele CYP2A6*4 in 95 cases was 13.2%.The blood concentration of VPA in patients with allele CYP2A6*4[(4.23?0.27)mg/ml]was significantly higher than that in patients without allele CYP2A6*4[(3.35?0.38)mg/ml](P

Stroke is the second leading cause of death worldwide.Atrial fibrillation (AF),the most common sustained cardiac arrhythmia,is an independent risk factor for stroke.AF-caused stroke has a high risk of recurrence and disability,mainly involving large cerebral artery.Thus,stroke prevention in AF becomes a major health priority.Anticoagulant therapy can significantly reduce the risk of ischemic stroke in patients with AF.This review summarized the epidemiological status of AF-related stroke,and reported updated information on AF detection,risk assessment,anticoagulation as well as other preventive measures in stroke prevention in AF,in order to provide theoretical references for clinical practice.At present,the prevention of AF-related stroke still needs to be promoted.Better risk assessment model,as well as cost-effective and safe ischemic stroke prevention methods,are still need to be further studied.

Parkinson's disease (PD) is a slowly progressive neurodegenerative disease that seriously affects the daily life of middle-aged and elderly people,and places a heavy burden on families and society.The pathophysiological mechanism of PD is complex,and its etiology is still unclear.Studies have shown that the occurrence and development of PD resulted from the interactions between complex genetic and environmental factors.This article reviews the risk factors associated with PD from multiple perspectives,might providing new insights into early intervention and prevention of Parkinson's disease.

With the aggravation of worldwide population aging,Alzheimer's disease (AD) has been an enormous impact on public health nowadays.Previous studies showed the incidence of AD has been declining in some high-income countries over three decades,which may be associated with improvement of living environment,education and medical care conditions.Therefore,evaluation risk factors of AD and take corresponding preventive measures has become an urgent problem to delay the occurrence and progress of AD.The mainly non-modifiable risk factors including age,gender,family history of genetic disease and genetic factors.Several modifiable risk factors are also confirmed to increase risk of AD occurrences,such as low education,hypertension and obesity in mid-life,diabetes mellitus,less physical activity,current smoking and depression.Various existing risk models for identifying individuals with high risk of AD have been developed in order to open new doors for targeted prevention.

Spinocerebellar ataxia (SCA) is a group of highly heterogeneous autosomal dominant genetic disease, including many subtypes. SCA11 is a rare subtype of SCA, and is caused by mutant TTBK2 gene. A case of SCA11 was reported in this article. Whole exome sequencing showed that there was a c.1284dupA frameshift mutation in TTBK2 gene. Literature review found that only 6 pedigrees of SCA11 have been reported, but the mutation site of this case is a novel identified mutation that has not been reported in the Human Gene Mutation Database.

In recent years, precision medicine has made significant progress in the early diagnosis and treatment of Alzheimer′s disease (AD), bringing revolutionary changes to traditional models. In response to these innovative developments, the Chinese Society of Dementia and Cognitive Impairment, starting from the needs of China′s healthcare system and patients, has formulated and released the "Chinese expert consensus on the diagnosis and treatment of mild cognitive impairment due to Alzheimer′s disease 2024". This consensus establishes a systematic and comprehensive diagnostic and therapeutic framework, which not only provides practical guidelines for implementation but also lays a solid foundation for the new stage of precise prevention and treatment of AD. Based on this, in-depth discussions and comments were conducted on AD′s biomarkers, clinical diagnostic criteria, disease staging, and early intervention strategies, aiming to assist clinical and research professionals in constructing a comprehensive AD precision medicine system and to emphasize the importance of early precision recognition and management of the disease, thus advancing early diagnostic and therapeutic efforts for AD into a new era of precision medicine.

Functional cognitive disorder (FCD) refers to complaints of persistent problematic cognitive decline, which is inconsistent between self-reported symptoms and daily function and/or neuropsychological test results, and the symptoms lasted for at least six months without obvious progress. Poor ability to reflect on and monitor cognitive processes has been suggested as a key mechanism underlying the disorder. In this review, the concept, research status, clinical manifestations and diagnosis of FCD were systematically examined, which is helpful to identify the subjective cognitive decline caused by non-degenerative diseases and conduct individualized intervention treatment.

Objective:To investigate the clinical, neuropsychological, and neuroimage characteristics in patients with corticobasal syndrome (CBS), and to elucidate the exact diagnosis of CBS patients.Methods:Twelve CBS cases admitted to the Department of Neurology, Huashan Hosiptal,Fudan University from April 2019 to July 2021 were retrospectively enrolled in this study. Those data, including clinical features (demographic data and clinical characteristics of cortical dysfunction and movement disorder), neuropsychological assessment [Mini-Mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA) scales score], brain magnetic resonance imaging (MRI) and multi-mode positron emission tomography (PET)/CT, were collected and carefully reviewed. Exact diagnosis of these patients was given according to the disease diagnosis criteria.Results:Cortical dysfunction and asymmetrical movement disorders were found in all cases, with poor response to levodopa. Patients suffered from cognitive impairment (MMSE score 16.16±9.82, MoCA score 13.44±7.35). The cranial MRI demonstrated significant asymmetric atrophy of frontal and parietal lobes, especially in the pre- and post-central gyrus. Fluorodeoxyglucose PET of 12 patients showed asymmetric frontal lobe and basal ganglia (especially caudate and putamen) hypometabolism (obviously on the contralateral side of the affected limb). Tau PET was implemented in 11 patients and displayed that abnormal tau protein deposition was positive in the cortex and/or subcortex in all patients. Of the 4 cases, who completed amyloid PET, amyloid protein deposition was positive in the cortex of 2 patients. As a result, 6 patients were diagnosed as progressive supranuclear palsy, 1 patient was diagnosed as corticobasal degeneration, and 5 patients were diagnosed as Alzheimer′s disease.Conclusions:The etiology of CBS is heterogeneous. The combination of clinical manifestation, cranial MRI and multi-mode PET/CT helps the differential diagnosis of CBS.

Alzheimer′s disease (AD) is the most common neurodegenerative disease. Its etiology and pathogenesis remain unclear. Since its inception, the amyloid-β (Aβ) cascade hypothesis has dominated the field of AD research and has provided the intellectual framework for disease-modifying therapies. Nowadays, many Aβ-targeted therapies have been accelerated approval or received Food and Drug Administration′s breakthrough therapy designation which offers a new dawn for disease-modifying treating AD. This article reviews the research progress of clinical trials of Aβ-targeting modification therapies, and summarizes the lessons learned from the clinical failure with several classes of anti-Aβ drugs. Although many challenges remain, anti-Aβ therapies have become a promising treatment strategy for AD.

Background::Previous studies have shown that inflammation plays an important role in intracranial atherosclerotic stenosis (ICAS). The platelet-to-lymphocyte ratio (PLR) has recently emerged as a potential inflammatory biomarker. This study aimed to explore the association of the PLR with ICAS in a Chinese Han population.Methods::A total of 2134 participants (518 with ICAS, 1616 without ICAS) were enrolled in this study. ICAS was defined as atherosclerotic stenosis >50% or the occlusion of several main intracranial arteries. Multivariable logistic regression analyses were used to assess the association of the PLR with ICAS. Additional subgroup analyses were performed according to age (<60 vs. ≥ 60 years) and acute ischemic stroke. Results::Multivariate regression analysis showed that a high PLR was associated with a higher risk of ICAS in all participants ( P < 0.001). Compared with the lowest quartile, the fourth PLR quartile was significantly associated with ICAS (OR 1.705, 95% confidence interval 1.278–2.275, P < 0.001). In the subgroups stratified by age, an association between the PLR and ICAS was found in the late-life group ( P < 0.001), but not in the mid-life group ( P = 0.650). In the subgroups stratified by acute ischemic stroke, the relationship between an elevated PLR and a higher risk of ICAS remained unchanged (stroke group, P < 0.001; non-stroke group, P = 0.027). Conclusions::An elevated PLR was associated with a higher risk of ICAS in a Chinese Han population. The PLR might serve as a potential biomarker for ICAS in the elderly population.