We report a case of spinocerebellar ataxia type 8(SCA8)presenting with multisystem atrophic phenotype.The patient was a 57-year-old male with a 4-year course of illness with dizziness and ataxia as the first symptoms,followed by autonomic dysfunction and rapid eye movement sleep disorder.Neurological examination reveals autonomic dysfunction,nystagmus,dysarthria,ataxia,brain stem and cerebellar symmetrical atrophy and"hot cross bun"sign on MRI.The diagnosis of SCA8 was confirmed by the genetic testing which showed an abnormally high number of CTA/CTG repeats in the two alleles of the ATXN8OS.The patient responded well to symptomatic treatment such as ataxia and autonomic dysfunction.SCA8 is a rare movement disorder with high clinical heterogeneity.This report suggests that SCA8 can also present with autonomic dysfunction,ataxia,pontine"hot cross bun"sign and other characteristics similar to multisystem atrophy phenotype.Thus,it is necessary for clinicians to avoid misdiagnosis or missing the diagnosis of SCA8 presenting with multiple system atrophy cerebral type in clinical work.

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.

Objective:To investigate the neuropsychological and imaging features of patients with posterior cortical atrophy (PCA).Methods:Patients of PCA, dementia with Lewy bodies (DLB), typical Alzheimer′s disease (t-AD) who were diagnosed in the Department of Neurology, Huashan Hospital, Fudan University from September 27, 2019, to September 24, 2021 were enrolled, and the normal controls who visited the Outpatient and Physical Examination Centers of Huashan Hospital, Fudan University and Rizhao People′s Hospital at the same time were enrolled, too. Neuropsychological assessments, magnetic resonance imaging (MRI), and positron emission tomography (PET)/CT data of the 4-group subjects were collected. Variance analysis was used to compare the differences in neuropsychological performance among the 4 groups, and the imaging features of PCA patients were summarized.Results:Eleven PCA patients, 17 DLB patients, 31 t-AD patients, and 11 normal controls were included in the study. The cognitive function of patients in the PCA group [Mini-Mental State Examination (MMSE) score 13.52±1.81; Montreal Cognitive Assessment (MoCA) score 7.06±1.72] was significantly impaired compared to the normal control group (MMSE score 27.85±1.75, t=-6.561, P<0.001; MoCA score 23.60±1.59, t=-7.968, P<0.001]. However, there was no statistically significant difference compared to the DLB group and the t-AD group. Patients in the PCA group exhibited more severe impairments in attention, executive function, and language compared to the DLB group (Trail Making Test A score: 298.86±16.16 vs 110.07±18.62, t=9.980, P<0.001; Trail Making Test B score: 305.51±18.89 vs 230.34±23.59, t=2.865, P=0.024; Boston Naming Test score: 8.67±1.53 vs 15.66±1.56, t=-2.682, P=0.013) and the t-AD group (148.91±12.77, t=7.071, P<0.001; 200.78±19.34, t=3.789, P=0.004; 15.15±1.05, t=-2.544, P=0.016). Scores for visuospatial function [PCA group: 1(0, 1), normal control group: 3(3, 3), Z=-4.023, P<0.001] and visual perception [PCA group: 0(0, 1), normal control group: 35(34, 36), Z=-3.704, P<0.001] were significantly lower in the PCA group compared to the normal control group. The cranial MRI findings of PCA patients showed atrophy of the parietal and occipital lobes, with less obvious atrophy of the medial temporal lobe, which can be distinguished from t-AD. 18F-fluorodeoxyglucose PET/CT of the PCA patients showed a relative reduced glucose metabolism in the bilateral parietal lobe, occipital lobe and posterior cingulate gyrus, while the 18F-florbetapir PET/CT showed deposition of amyloid protein in the bilateral frontal lobe, parietal lobe, temporal lobe, and cingulate gyrus. Conclusions:PCA patients exhibit neuropsychological characteristics of visuospatial dysfunction, along with impairments in various cognitive domains such as memory, attention, and executive functions. The typical MRI feature is parietal occipital lobe atrophy, and the PET/CT findings are consistent with metabolic changes in AD.

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.

Objective:To describe the characteristics and change trends of incidence, mortality and disease burden of acute myocardial infarction (AMI) in Qingdao from 2014 to 2020.Methods:We analyzed the incidence data of AMI retrieved from Qingdao Chronic Diseases Surveillance System. The average annual percent change (AAPC) of morbidity and mortality of AMI were evaluated by using Joinpoint log-linear regression model. Disability adjusted life year (DALY) was used to estimate disease burden of AMI in Qingdao.Results:A total of 70 491 AMI cases and 50 832 deaths of AMI occurred in Qingdao from 2014 to 2020. The age-standardized morbidity and mortality were 54.71/100 000 and 36.55/100 000, respectively. During 2014-2020, the AAPC of age-standardized morbidity was 2.86% (95% CI: 0.42%-5.35%), and 4.30% (95% CI: 1.24%-7.45%) in men and 0.78% (95% CI: -0.89%-2.47%) in women, respectively. The log-linear regression model showed that age-standardized morbidity in age groups 30-39, 40-49 years increased rapidly, with the AAPCs of 8.92% (95% CI: 2.23%-16.06%) and 6.32% (95% CI: 3.30%-9.44%), respectively. The trend was also observed in age groups 30-39, 40-49 and 50-59 years in men, with the AAPCs of 11.25% (95% CI: 3.54%-19.54%), 6.73% (95% CI: 2.63%-10.99%) and 6.72% (95% CI: 2.98%-10.60%), respectively. There was no significant change in age-standardized mortality. The DALY rate increased from 7.49/1 000 in 2014 to 8.61/1 000 in 2020, with the AAPC of 1.97% (95% CI: 0.36%-3.60%). Conclusions:The age-standardized morbidity of AMI in men increased in Qingdao, especially in those aged 30-49 years, while age-standardized mortality rate of AMI was relatively stable from 2014 to 2020. The burden of disease of AMI increased in both men and women.

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.

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.

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.

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.

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.