Neurocysticercosis is a common parasitic disease of the central nervous system (CNS), and its clinical manifestation depends on the number and location of the lesions and the host’s immune response to parasites. Here, we reported a case study of a 34-year-old male patient who presented with 5 times repeated incidents of transient upper left limb weaknesses, each time lasting for about one minute a day. Cranial magnetic resonance imaging (MRI) revealed long T1- and long T2-weighted signals indicating lesions in the right insular and temporal lobes, stenosis of the right lateral fissure, and irregular annularly enhanced lesions in the right lateral fissure. Furthermore, magnetic resonance angiography (MRA) examinations revealed the occurrence of local stenosis in the M2 segment of the right middle cerebral artery. The patient was diagnosed with cerebral neurocysticercosis. After albendazole treatment, the annular ring enhancement of the lesion was significantly reduced, and the local stenosis of the middle cerebral artery disappeared, as well.

Neuronal intranuclear inclusion disease (NIID) is a multifaceted disorder impacting both the central and peripheral nervous systems. This study aims to investigate the clinical and electrophysiological characteristics of peripheral neuropathy in patients with NIID. In this cross-sectional study, patients diagnosed with NIID were prospectively recruited from multiple centers across China between October 2017 and May 2024. Comprehensive neurological examinations, brain magnetic resonance imaging, and NOTCH2NLC gene analysis were performed. All participants underwent electrophysiological evaluations, which encompassed nerve conduction studies, F-wave studies, and needle electromyography. This analysis included a total of 78 patients diagnosed with NIID, with a mean age of 61.0 ± 9.9 years, of whom 60.2

This case involves a 27-year-old man who presented with progressive bilateral visual impairment that initially improved with steroid therapy but subsequently worsened. The clinical problem centers on diagnosing optic nerve damage with meningeal involvement unresponsive to standard interventions. The patient's vision loss began insidiously in the right eye and later affected the left, with fundoscopy showing bilateral optic nerve atrophy. Although steroids provided temporary relief, the condition deteriorated, necessitating further investigation. MRI revealed dural thickening and enhancement near the optic canals, suggesting an infiltrative or compressive process. The diagnostic approach required considering inflammatory, compressive, and infiltrative etiologies, with a biopsy ultimately proving critical when initial treatments failed. This case underscores the importance of a stepwise diagnostic strategy and highlights the need to consider rare conditions in atypical presentations, guiding readers through the differential diagnosis.

Background and Objectives Neuronal intranuclear inclusion body disease (NIID) is a neurodegenerative disease with highly heterogeneous clinical manifestations. The present study aimed to characterize clinical features and propose a classification system based on a large cohort of NIID in China. Methods The Chinese NIID registry was launched from 2017, and participants' demographics and clinical features were recorded. Brain MRI, skin pathologies, and the number of GGC repeat expansions in the 5′ untranslated region of the NOTCH2NLC gene were evaluated in all patients. Results In total, 223 patients (64.6% female) were recruited; the mean (SD) onset age was 56.7 (10.3) years. The most common manifestations were cognitive impairment (78.5%) and autonomic dysfunction (70.9%), followed by episodic symptoms (51.1%), movement disorders (50.7%), and muscle weakness (25.6%). Imaging markers included hyperintensity signals along the corticomedullary junction on diffusion-weighted imaging (96.6%), white matter lesions (98.1%), paravermis (55.0%), and focal cortical lesions (10.1%). The median size of the expanded GGC repeats in these patients was 115 (range, 70–525), with 2 patients carrying >300 GGC repeats. A larger number of GGC repeats was associated with younger age at onset (r = −0.329, p < 0.0001). According to the proposed clinical classification based on the most prominent manifestations, the patients were designated into 5 distinct types: cognitive impairment-dominant type (34.1%, n = 76), episodic neurogenic event-dominant type (32.3%, n = 72), movement disorder-dominant type (17.5%, n = 39), autonomic dysfunction-dominant type (8.5%, n = 19), and neuromuscular disease-dominant type (7.6%, n = 17). Notably, 32.3% of the episodic neurogenic event-dominant type of NIID has characteristic focal cortical lesions on brain MRI presenting localized cortical edema or atrophy. The mean onset age of the neuromuscular disease-dominant type was 47.2 (17.6) years, younger than the other types (p < 0.001). There was no significant difference in the sizes of GGC repeats among the patients in the 5 types (p = 0.547, Kruskal-Wallis test). Discussion This observational study of NIID establishes an overall picture of the disease regarding clinical, imaging, and genetic characteristics. The proposed clinical classification of NIID based on the most prominent manifestation divides patients into 5 types.

PURPOSE:Perry disease is a rare autosomal dominant neurodegenerative disorder with core features of parkinsonism, depression, apathy, weight loss, and central hyperventilation. To date, few cases of Perry disease have been reported worldwide, and they are all due to mutations in the DCTN1 gene. We report a case of a Chinese pedigree.METHODS:Clinical information was collected from a Chinese pedigree. Brain magnetic resonance imaging, pulmonary function tests, and arterial blood gas analysis were performed on both the proband and his youngest aunt. Genomic DNA from the proband's aunt was analyzed using whole-exome sequencing to detect genetic mutations.RESULTS:The family displayed an autosomal dominant mode of inheritance, and we identified a p.Y78H mutation in DCTN1. After 6 years of follow-up, the proband exhibited mood-related "on-off" phenomena, weight gain, and used a CPAP ventilator at night. The proband's aunt presented with weight loss and respiratory failure four years after disease onset.CONCLUSION:This study reports a Chinese family with Perry disease. The mutation of DCTN1 in this family is p.Y78H. We share the findings in this family, hoping to increase our understanding of Perry disease in clinical work.DATA AVAILABILITY STATEMENT:The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.

Canagliflozin is an antidiabetic medicine that inhibits sodium-glucose cotransporter 2 (SGLT2) in proximal tubules. Recently, it was reported to have several noncanonical effects other than SGLT2 inhibiting. However, the effects of canagliflozin on skeletal muscle regeneration remain largely unexplored. Thus, in vivo muscle contractile properties recovery in mice ischemic lower limbs following gliflozins treatment was evaluated. The C2C12 myoblast differentiation after gliflozins treatment was also assessed in vitro. As a result, both in vivo and in vitro data indicate that canagliflozin impairs intrinsic myogenic regeneration, thus hindering ischemic limb muscle contractile properties, fatigue resistance recovery, and tissue regeneration. Mitochondrial structure and activity are both disrupted by canagliflozin in myoblasts. Single-cell RNA sequencing of ischemic tibialis anterior reveals a decrease in leucyl-tRNA synthetase 2 (LARS2) in muscle stem cells attributable to canagliflozin. Further investigation explicates the noncanonical function of LARS2, which plays pivotal roles in regulating myoblast differentiation and muscle regeneration by affecting mitochondrial structure and activity. Enhanced expression of LARS2 restores the differentiation of canagliflozin-treated myoblasts, and accelerates ischemic skeletal muscle regeneration in canagliflozin-treated mice. Our data suggest that canagliflozin directly impairs ischemic skeletal muscle recovery in mice by downregulating LARS2 expression in muscle stem cells, and that LARS2 may be a promising therapeutic target for injured skeletal muscle regeneration.

Introduction To explore the combined diagnostic value of plasma Lewy body-associated proteins (p-Asyn at ser129, total α-syn, and oligomeric α-syn) for the diagnosis of PD versus healthy controls (HCs) and other PD syndromes (PDs), as well as clinical characteristics prediction. Methods This study included 145 participants: 79 patients with PD, 24 patients with PDs, and 42 HCs. A panel of plasma levels of p-Asyn, total α-syn, and oligomeric α-syn was measured by enzyme-linked immunosorbent assay (ELISA). The primary outcome was the discriminative accuracy of the combined three plasma biomarkers for PD. Results The mean age was 65.43 (SD, 7.467) in the control group, 64.49 (SD, 8.224) in participants with PD, and 69.25 (SD, 7.952) in PDs. The plasma Lewy body-associated protein levels were significantly higher in patients with PD than in age-matched HCs, However, there was no difference in patients with PD and PDs. Of note, a combination of plasma p-Asyn, total α-syn, and oligomeric α-syn was a better biomarker for discriminating PD from HCs, with an AUC of 0.8552 ( p < 0.0001, 95%CI, 0.7635–0.9409), which was significantly higher than plasma p-Asyn (ΔAUC, 0.1797), total α-syn (ΔAUC, 0.0891) and oligomeric α-syn (ΔAUC, 0.1592) alone. Meanwhile, Lewy body-associated proteins had no connections between different motor stages and dementia performances. Conclusion Our results suggested that plasma Lewy body-associated proteins, may serve as a non-invasive biomarker to aid the diagnosis of PD from HCs. In addition, increased plasma Lewy body-associated proteins were not associated with the progression of motor and non-motor symptoms.

Recent evidence demonstrated that functional bacteria were involved in the regulation of Parkinson’s disease (PD). However, the mechanism of probiotics in improving PD was unclear. Here the antioxidant effect and the mechanism of probiotics Pediococcus pentosaceus (PP) on PD were studied by regulating the gut–brain axis. In this study, male C57BL/6J mice were injected with 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) intraperitoneally to establish a PD model and were then treated with PP for 4 weeks. Subsequently, a series of neurobehavioral tests to evaluate the motor function of the mice was performed. Additionally, degeneration of dopaminergic neurons, accumulation of α-synuclein, the production of an oxidative stress response, and the expression of nuclear factor erythroid 2-related factor 2 (Nrf2) pathway-related proteins were evaluated. Moreover, the gut microbial composition and the level of metabolite γ-aminobutyric acid (GABA) were assessed. The results showed that PP treatment could improve MPTP-induced motor deficits, the degeneration of dopaminergic neurons, and the accumulation of α-synuclein. Moreover, PP treatment significantly increased the levels of SOD1, Gpx1, and Nrf2, while it decreased the levels of Keap1 in the brain of MPTP-induced mice. Notably, PP treatment improved the gut microbial dysbiosis and increased the level of GABA in MPTP-induced mice. These findings indicated that PP might represent a promising candidate, due to the metabolite of GABA, that could be used for the treatment of PD.

神经元核内包涵体病(neuronal intranuclear inclusion disease, NIID)的病理特征在于患者中枢和外周神经系统及内脏中存在嗜酸性透明包涵体[1].NIID临床特征具有高度异质性.可以多系统受累,累及皮层,锥体系、锥体外系,小脑、周围神经,表现为痴呆、帕金森症、小脑共济失调等.在临床诊疗工作中,由于对该病的认识不够,容易发生误诊,急性起病的患者易被误诊为缺血性脑血管病、脑炎、癫痫等疾病,慢性起病的则可被误诊为阿尔兹海默病、周围神经病及常染色体显性遗传性脑动脉病.目前有关NIID的大型临床研究还很缺乏,多以病例报告形式报道,现报告1例以脑炎症状起病的NIID.

Parkinson's disease (PD), known as a neurodegenerative disorder, shows typical pathology of neuroin�ammation, which might be the result of the imbalance between regulatory T cells (Treg) and T helper 17 (Th17) cells. The present study aimed to investigate the modulating effect of Ad-MSCs on peripheral blood mononuclear cells (PBMCs) derived from PD patients. CD4 + peripheral blood T cells were isolated and co-cultured with Ad-MSCs at a ratio of 4:1 under Th17 or Treg polarizing conditions, respectively, for 4 days. Our results showed that Ad-MSCs speci�cally inhibited the differentiation of IL-17-producing CD4 + T cells collected from PBMCs of PD patients evidenced by the decreased expression of RORγt- the key transcription factor for Th17 cells, IL-6R, and IL-23R. In the meantime, Ad-MSCs and induced a functional CD4 + CD25 + Foxp3 + T regulatory cell phenotype evidenced by the secretion of IL-10. Furthermore, levels of LIF protein and its receptor mRNA were signi�cantly increased under both polarizing conditions. These �ndings suggest that the regulation of the Th17/Treg balance by Ad-MSCs was correlated with the increase in LIF secretion. Therefore, Ad-MSCs are an important player in modulating in�ammatory responses and a potential therapeutics for PD patients.

Post-stroke cognitive impairment (PSCI) is a severe complication of stroke. Predicting PSCI is difficult because some risk factors for stroke, such as blood glucose level and blood pressure, are affected by many other elements. Although recent studies have shown that high serum uric acid (UA) levels are associated with cognitive dysfunction and may be a risk factor for PSCI, its impact remains unclear. Accordingly, the present study aimed to explore the association between serum UA level and PSCI. In total, 274 patients who experienced acute cerebral infarction, confirmed between January 2016 and December 2018, were enrolled. Baseline data and biological indicators were recorded. According to the Montreal Cognitive Assessment (MoCA) scores, patients were divided into two groups: PSCI and non-PSCI. Logistic regression analysis was used to determine possible risk factors for PSCI. Results demonstrated that serum UA levels were significantly higher in the PSCI group than in the non-PSCI group. Multivariable logistic analysis revealed that age, years of education, and UA level were independent risk factors for PSCI. PSCI patients were subdivided according to serum UA level: high and low. Hypertension history and homocysteine (Hcy) levels differed significantly between the high and low UA level groups. Further analysis revealed that a history of hypertension and Hcy demonstrated a certain correlation (r = 0.163, 0.162; P < 0.05), suggesting that serum UA level was an independent risk factor for PSCI. These findings indicate that serum UA level was correlated with PSCI in post-stroke patients and is anticipated to be used in clinical practice to reduce the incidence of PSCI.

Abstract Background Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative condition characterized by the loss of neurons and the presence of eosinophilic nuclear inclusions in the central and peripheral nervous system, skin and visceral organs. In this paper, we present a case of NIID with recurrent encephalitic attacks that remained stable and nonprogressive for seven years; no such case has previously been reported. Case presentation A 63-year-old female was hospitalized due to light-headedness, vomiting, unstable gait and cognitive impairment. Seven years prior, she had experienced an episode of light-headedness, central facial paralysis, unstable gait, aphasia, nausea, vomiting and loss of consciousness. She regained consciousness within 12 h, and her other symptoms were completely resolved within one week. During the present hospitalization, a brain magnetic resonance imaging (MRI) examination detected high signal intensity on diffusion-weighted imaging (DWI) of the bilateral frontal grey matter–white matter junction. We reviewed the patient’s previous MRI results and found that she had also had high signal intensity on DWI of the bilateral frontal grey matter–white matter junction seven years prior. In the intervening seven years, the high signal intensity in the frontal lobes had spread along the grey matter–white matter junction, but the deep white matter remained unaffected. Skin biopsy was performed, and intranuclear inclusions were found in adipocytes, fibroblasts and sweat gland cells. GGC repeat expansions in the NOTCH2NLC (Notch 2 N-terminal like C) gene confirmed the diagnosis of NIID. She received supportive treatment such as nutrition support therapy and vitamin B and C supplementation, as well as symptomatic treatment during hospitalization. The patient’s symptoms were completely relieved within one week. Conclusion This is a detailed report of a case of NIID with multiple reversible encephalitic attacks, diagnosed by clinical symptoms, intranuclear inclusions, characteristic DWI signals, and genetic tests.

目的:探讨Holmes震颤(HT)临床特征、病因、影像学表现及治疗.方法:对2015年9月至2018年6月温州医科大学附属第一医院收治的6例HT患者的病历资料和录像资料进行回顾性分析.结果:男4例、女2例,年龄14～67岁.病因:脑出血3例、脑梗死1例、外伤性脑损伤1例、视神经脊髓炎谱系病1例.原发病至震颤发生的中位潜伏期为2个月(14 d～8个月).HT合并的症状/体征:偏瘫4例、共济失调3例、感觉减退3例、肌张力障碍2例、颅神经受累、构音障碍及软腭阵挛各1例.头颅MRI显示病变累及中脑5例、丘脑4例,桥脑1例.短期内左旋多巴治疗明显缓解1例、中度缓解2例,3例联合氯硝西泮治疗明显缓解2例,无效1例.3例在3年间随访均存在疗效减退.结论:本组HT最常见的病因是血管病变,最常见的受累部位为中脑和(或)丘脑.短期内左旋多巴和氯硝西泮有一定治疗效果,长期使用疗效减退.

Parkinson's disease (PD), known as a neurodegenerative disorder, shows typical pathology of neuroinflammation, which might be the result of the imbalance between regulatory T cells (Treg) and T helper 17 (Th17) cells. The present study aimed to investigate the modulating effect of Ad-MSCs on peripheral blood mononuclear cells (PBMCs) derived from PD patients. CD4 + peripheral blood T cells were isolated and co-cultured with Ad-MSCs at a ratio of 4:1 under Th17 or Treg polarizing conditions, respectively, for 4 days. Our results showed that Ad-MSCs specifically inhibited the differentiation of IL-17-producing CD4 + T cells collected from PBMCs of PD patients evidenced by the decreased expression of RORγt- the key transcription factor for Th17 cells, IL-6R, and IL-23R. In the meantime, Ad-MSCs and induced a functional CD4 + CD25 + Foxp3 + T regulatory cell phenotype evidenced by the secretion of IL-10. Furthermore, levels of LIF protein and its receptor mRNA were significantly increased under both polarizing conditions. These findings suggest that the regulation of the Th17/Treg balance by Ad-MSCs was correlated with the increase in LIF secretion. Therefore, Ad-MSCs are an important player in ­modulating inflammatory responses and a potential therapeutics for PD patients.

目的 探讨帕金森病(Parkinson's disease,PD)患者不同脑区白质疏松(leukoaraiosis,LA)对认知功能的影响.方法 收集2015年1月-2017年1月于温州医科大学附属第一医院神经内科住院的PD患者87例,采用MMSE和MoCA量表评估认知功能.运用UPDRS-Ⅲ评价PD患者运动功能,Hoehn-Yahr分期进行病情分级.根据认知评分和诊断标准,将PD患者分为3组:认知功能正常组(PD-NC)、轻度认知功能障碍组(PD-MCI)和痴呆组(PD-D),入组者均行头颅MRI(3.0 T)检查,运用Scheltens量表对侧脑室旁、深部白质评分.结果 3组间不同部位白质疏松比较,额叶、深部白质、侧脑室旁、LA总分差异有统计学意义(均P＜0.05).顶叶、枕叶、颞叶、基底节、幕下白质疏松评分差异无统计学意义(均P＞0.05),PD-MCI组与PD-NC组相比较,额叶LA评分差异有统计学意义.侧脑室旁LA评分PD-D组与其余两组相比较,差异有统计学意义.回归分析结果显示,MMSE与教育程度(P＜0.001)、H-Y分期(P=0.008)、深部白质(P＜0.001)显著相关,教育程度呈正相关,H-Y分期和深部白质呈负相关.MMSE与深部白质关系最显著(β=-1.034).结论 PD认知功能与LA具有相关性,尤其是额叶、深部白质,PD患者MMSE与深部白质关系最为显著.

神经元核内包涵体病是一种神经系统退行性疾病,具有临床异质性,国内罕见报道,我们报道1例散发性成人型神经元核内包涵体病的临床、影像和病理资料,以期提高临床医师对该病的认识。

Purpose: To investigate the effect and mechanism of curcumin on depression in mice Methods: Mice were subjected to chronic unpredictable mild stress (CUMS), and behavioural changes were evaluated by sucrose preference test (SPT) and forced swimming test (FST). CUMS-treated mice received curcumin at a concentration of 50, 100, or 200 mg/kg. The level of MiR-124 was measured by real-time polymerase chain reaction (RT-PCR). Brain-derived neurotrophic factor (BDNF) levels were evaluated by western blotting. Results: CUMS induced depressive behaviour in mice, with increase in miR-124 and decrease in BDNF. Curcumin inhibited miR-124 expression and promoted BDNF in a dose-dependent manner in CUMS-treated mice. Brain-derived neurotrophic factor was the direct target of miR-124, decreasing the transcription of BDNF, but this was reversed by curcumin in vitro. MicroRNA-124 overexpression aggravated CUMS-induced depressive symptoms including loss of appetite, less sucrose consumption, shorter swimming time, and longer immobility time (p < 0.001). The effects were attenuated by curcumin. Conclusion: Curcumin alleviates CUMS-induced depressive behaviour by regulating miR-124/BDNF, suggesting that curcumin may a viable treatment option for depression.

As the most common neurodegenerative disease, Alzheimer's disease (AD) is characterized by memory, perception, and behavioral damage, which may ultimately lead to emotional fluctuation and even lethal delirium. Increasing studies indicate that microRNAs (miRNAs) are associated with pathological features of AD. However, the role of miR-219-5p in AD progression is still unclear. In this study, the functions of miR-219-5p were analyzed in vitro and in vivo. miR-219-5p was notably overexpressed in brain tissues of patients with AD. The overexpression of miR-219-5p activated the phosphorylation of Tau-Ser198, Tau-Ser199, Tau-Ser201, and Tau-Ser422. We further showed that miR-219-5p could mediate a decrease in the protein levels of tau-tubulin kinase 1 (TTBK1) and glycogen synthase kinase 3β (GSK-3β) by directly binding to their 3'-untranslated region, thereby promoting the phosphorylation of tau in SH-SY5Y Cells. Rescue experiments further revealed that the phosphorylation of tau-mediated by miR-219-5p was dependent on the inhibition of TTBK1 and GSK-3β. Moreover, suppressing the expression of both TTBK1 and GSK-3β using miR-219-5p remarkably rescued AD-like symptoms in amyloid precursor protein/presenilin 1 mice. Our findings indicate that the upregulation of TTBK1 and GSK-3β mediated by the loss of miR-219-5p is a possible mechanism that contributes to tau phosphorylation and AD progression.

Objective To investigate the correlation between NOTCH3 polymorphic locus rs1043994 and white matter lesions (WML). Methods The enrolled subjects were elderly in the outpatient clinic for health check-up from January 2015 to January 2017. According to the results of cranial MR examination, 337 elderly people were divided into the WML group (n=172) and normal control group (n=165). The inclusion criteria were: (1) age ≥ 50 years old; (2) those who can cooperate with head MRI examination; (3) those who understand the study and agree to retain blood samples for SNP testing. Exclusion criteria were: (1) previous neurological diseases such as cerebrovascular disease, intracranial infection, dementia, and trauma; (2) having a history of mental illness; (3) suffering from serious diseases such as liver and kidney dysfunction, heart disease, tumors. The clinical data of the subjects were collected and the peripheral venous blood was extracted for DNA extraction. The cognitive function was evaluated by the Mini-mental State Examination. The genotyping of the subjects was carried out by restriction endonuclease. The correlation between rs1043994 polymorphism and WML was analyzed by Logistic regression. Results There was no significant difference in gender, education level, diabetes, hyperlipidemia, smoking, uric acid and Hcy between the two groups (P>0.05). Compared with the control group, the WML group had a higher average age and a higher proportion of hypertension (P<0.05), and the Mini-mental State Examination scores between the two groups were statistically significant different (P<0.01). The genotypes (AA, AG, GG) frequency and allele (A, G) frequency distribution of rs1043994 were statistically different between the two groups (P<0.05). Multivariate Logistic regression analysis showed that age (P=0.001), hypertension (P=0.012) and AA genotype (P=0.019) were independent risk factors of WML (P<0.05). The risk of WML in AA genotype is 2.512 times higher than that in AG/GG genotype. Conclusions The rs1043994 polymorphism of NOTCH3 gene is associated with WML in the elderly population, and the A allele is a susceptibility gene for WML. The rs1043994 polymorphism of the NOTCH3 gene may be a genetic risk factor for WML in the Chinese elderly population.