The pathogenic mechanisms underlying neuroimmune disorders associated with anti-glutamic acid decarboxylase (GAD) antibodies remain incompletely elucidated. This article systematically reviews the immunopathological mechanisms of this disease. In humoral immunity, anti-GAD antibodies target intracellular antigens and induce neuronal dysfunction, yet the mechanisms of antibody penetration across cell membranes remain undefined, and validated animal models confirming their pathogenicity are lacking. In cellular immunity, histopathological studies demonstrate T-lymphocyte infiltration in the central nervous system (CNS) of patients, while GAD antigen-specific T cells have been detected in peripheral blood and cerebrospinal fluid. However, the antigen specificity of CNS-infiltrating T cells and their potential association with GAD reactivity remain unclarified. Additionally, the CNS migration routes, functional phenotypes of these T cells, and their synergistic interplay with humoral immune responses require further investigation. Future research should focus on: (1) resolving the transmembrane mechanisms of anti-GAD antibodies; (2) defining the CNS trafficking pathways and functional roles of GAD antigen-specific T cells; (3) establishing reliable animal models to recapitulate disease-specific immune cascades. Elucidating these mechanisms will advance the development of precise diagnostic and therapeutic strategies.

Currently, the clinical management of multiple system atrophy (MSA) is primarily limited to symptomatic treatment. While existing medications can partially alleviate motor symptoms and autonomic dysfunction, their overall efficacy remains unsatisfactory, and there is a lack of effective disease-modifying therapies. In recent years, with the deepening understanding of disease mechanisms, alpha-synuclein, identified as a key pathogenic factor, has become a major target in MSA therapeutic research. This article concentrates on targeted immunotherapy and reviews recent global and domestic advances, aiming to provide a theoretical reference for the development of novel therapeutic strategies for MSA.

In 2024, notable progress was made in the clinical treatment of Parkinson′s disease (PD). These advancements encompass key areas such as novel drugs like glucagon-like peptide-1 receptor agonists, pralidoxime, and levodopa subcutaneous injection, novel neuroregulatory therapies like closed-loop adaptive deep brain stimulation, bilateral magnetic resonance imaging-guided focused ultrasound ablation, and fecal microbiota transplantation, all of which have propelled the precision treatment of PD. The significant advancements in the clinical treatment of PD published in major international academic journals in 2024 were systematically reviewed in this article.

Balo′s concentric sclerosis (BCS) is a rare demyelinating disease of the central nervous system, once considered a variant of multiple sclerosis. It is characterized by alternating layers of demyelinated and myelinated regions in a concentric pattern, resembling tree rings. The disease typically has an acute onset and diverse clinical manifestations. In the past, diagnosis of BCS primarily relied on autopsy; however, with the widespread application of magnetic resonance imaging, the number of confirmed cases has gradually increased, significantly improving the efficiency of clinical diagnosis and treatment. Nevertheless, most reports both domestically and internationally remain limited to individual cases. This article provides a review of the epidemiology, etiology, predisposing factors, pathogenesis, neuropathological features, clinical manifestations, differential diagnosis, relationship with multiple sclerosis, auxiliary examinations, and treatment of BCS.

Deep intronic variants refer to genetic variants located within intronic regions that are more than 100 base pairs away from exon-intron boundaries. These variants have historically been overlooked in the genetic testing of hereditary skeletal muscle diseases. Conventional genetic testing methods, such as whole exome sequencing, primarily focus on coding regions and exon-intron junctions [±(50-200) bp], thereby failing to detect abnormalities in extensive intronic regions. Furthermore, assessing the pathogenicity of identified deep intronic variants remains challenging. Recent studies have demonstrated that certain hereditary myopathies can be attributed to deep intronic variants. The underlying pathogenic mechanisms include the formation of pseudoexons, activation of cryptic splice sites, and disruption of transcriptional regulation. Although deep intronic variants can be detected using whole-genome sequencing or third-generation long-read sequencing technologies, these approaches are associated with high costs and difficulties in interpreting the results. Clinically, a combination of multiple detection methods is necessary for comprehensive analysis. Integrating functional validation techniques, such as RNA sequencing and minigene assays, facilitates the interpretation of deep intronic variants and enhances diagnostic yield, thereby offering novel insights into the diagnosis and management of hereditary myopathies.

Objective:To describe the clinical and pathological features of patients with myofasciitis.Methods:The clinical manifestations and auxiliary examination (laboratory, electromyogram, imaging and muscle biopsy) results of 52 patients with myofasciitis diagnosed by pathology at Peking University First Hospital from August 2002 to December 2024 were collected and analyzed.Results:Among the 52 patients (33 males and 19 females), the age of disease onset was (34.4±16.4) years (6.0-73.0 years) and the disease duration was 17.7 (0.3, 120.0) months; the main symptoms included myalgia in the distal limbs (28 cases, 53.8%), diffuse cutaneous or muscle sclerosis (21 cases, 40.4%), muscle weakness (22 cases, 42.3%) and limited joint activity (23 cases, 44.2%); 12 patients (23.1%) were combined with other diseases. All patients had no history of vaccination. Laboratory examinations showed that 80.8% (21/26) of patients had elevated C-reactive protein, 80.0% (20/25) had elevated erythrocyte sedimentation rate, and 26.5% (9/34) had elevated creatine kinase. Among 19 patients undergoing electromyography, 6 cases showed myogenic changes, 4 cases showed neurogenic changes, 1 case showed both myogenic and neurogenic changes, and 8 cases showed no obvious abnormality. Myofascial edema was observed in all 15 patients who underwent muscle magnetic resonance imaging, with partial involvement of adjacent muscles in some cases. According to myopathological changes, the 52 patients were divided into macrophagic myofasciitis in 41 cases (78.8%), lymphocytic myofasciitis in 7 cases (13.5%), and eosinophilic fasciitis in 4 cases (7.7%). Among the 52 patients, fibroblast proliferation in the myofascia was present in 39 cases (75.0%), subfascial muscle fiber atrophy in 28 cases (53.8%), and scattered muscle fiber necrosis and regeneration in 15 cases (28.8%). Major histocompatibility complex class Ⅰexpression on muscle fibers was positive in 89.5% (34/38) of patients, and membrane attack complex deposition on muscle fibers and/or capillary walls was present in 39.5% (15/38) of patients. Among 25 patients with follow-up, all received low-dose oral glucocorticoids, and 7 additionally received methotrexate, intravenous immunoglobulin, or hydroxychloroquine. During follow-up, 22 patients showed clinical improvement, 1 patient remained stable, and 2 patients died.Conclusions:Non-vaccine-associated macrophagic myofasciitis is the most common pathological subtype of myofasciitis. A few patients are concomitant with other diseases. Muscle magnetic resonance imaging is helpful in the diagnosis of the disease. Most patients respond to immunosuppressive treatment.

Objective:To investigate the clinical and genetic characteristics of patients with amyotrophic lateral sclerosis (ALS) caused by FUS gene mutations. Methods:A retrospective analysis was conducted on 7 families diagnosed with FUS gene related ALS in the Department of Neurology of Henan Provincial People′s Hospital from January 2018 to June 2024. Clinical data and neuroelectrophysiological results of the probands and family members were collected. Next generation sequencing or whole exome sequencing was conducted on the probands. The detected variants of the FUS gene were confirmed by Sanger sequencing. Results:Among the 7 probands, 4 were with familial ALS and 3 with sporadic ALS, including 6 males and 1 female. The average age of onset was 24.6 years (ranging from 21 to 30 years). The onset site included bulbar muscles in 1 case, proximal upper limbs in 3 cases, proximal lower limbs in 2 cases, and both upper and lower limbs in 1 case. Four patients presented both upper and lower motor neurons involvement on examination, and 3 had only lower motor neuron syndrome. Muscle atrophy and fasciculation were observed in 6 patients respectively, and dyspnea in 3 patients. Bilateral muscle strength was asymmetric in 5 patients. Proximal muscle weakness was predominant in 6 of the 7 patients with upper limb weakness, and 3 of the 5 patients with lower limb weakness. Electromyography showed neurogenic damage in all 7 cases. Five heterozygous variants of the FUS gene were detected in 7 patients, including 2 patients with c.1574C>T(p.P525L), 2 with c.1552A>G(p.R518G), 1 with c.1561C>T(p.R521C), 1 with c.1441delC(p.R481Efs *48), and 1 with both c.1574C>T(p.P525L) and c.430_447del(p.G144_Y149del) variants. The variant c.1441delC(p.R481Efs *48) had not been previously reported. During follow-up, 6 patients died of respiratory failure 6-18 months after onset, with an average of 11.8 months. Conclusions:Patients with FUS gene related ALS have an early age of onset, rapid progression, short survival period, asymmetric limb weakness, and more severe involvement of proximal limbs. The c.1574C>T(p.P525L) is a hotspot mutation, and the novel variant c.1441delC(p.R481Efs *48) enriches the mutation spectrum of the FUS gene.

Objective:To report the clinical, imaging, and pathological features of a case of MYH7 gene-related scapuloperoneal myosin storage myopathy. Methods:Clinical data were collected from a patient with MYH7 gene-related scapuloperoneal myosin storage myopathy who presented to Peking University First Hospital in February 2025. The patient was evaluated with muscle magnetic resonance imaging, muscle biopsy, and whole-exome sequencing. Results:The patient was a 52-year-old female, with a 12-year history of progressive difficulty in foot dorsiflexion, exercise-induced fatigue, and lower limb pain. Over the past 3 years, she developed proximal upper limb weakness and post-exertional myalgia. Physical examination revealed scapuloperoneal weakness distribution accompanied by sensorineural hearing loss. Electromyography demonstrated myogenic changes in the deltoid and tibialis anterior muscles. Serum creatine kinase levels were within normal limits. Lower limb magnetic resonance imaging showed mild atrophy of the thigh muscles and significant fatty infiltration in the tibialis anterior, extensor hallucis longus, and extensor digitorum longus. Tibialis anterior muscle biopsy revealed dystrophic-like changes with sub-sarcolemmal hyaline bodies containing abundant granulofilamentous material. Whole exome sequencing identified a heterozygous pathogenic variant of c.5352_5354del(p.K1784del) in the MYH7 gene. Conclusions:This patient is the first reported one in China with MYH7 gene-related scapuloperoneal myosin storage myopathy, exhibiting characteristic scapuloperoneal weakness, selective fatty infiltration of the anterior lower leg muscles on imaging and sub-sarcolemmal hyaline body pathological changes. The diagnosis of this disease relies on characteristic pathological findings and genetic test results.

The Chinese Journal of Neurology has gone through nearly 70 years of brilliance, which is also the epitome of the research history of neurology in China, and also represents the contributions made by famous experts of neurology and neurosurgery in China. Nowadays, the Chinese Journal of Neurology has developed into a brand publication in China. Here, the high-level and wonderful research papers published in this journal by China′s famous neurological and neurosurgical experts are reviewed, which are still good complete information for learning and treating patients today. For over 20 years, the Chinese Journal of Neurology has published more than 160 guidelines and consensuses on the diagnosis and treatment of nervous system disease, some of which are still the first in China and abroad, providing excellent guidance and reference for Chinese peers to diagnose and treat patients in a standard, scientific and economic manner.

Alzheimer′s disease (AD) is a major public health challenge with no curative treatment at present and has become the fifth leading cause of death for urban and rural residents in China. Although diagnostic technology has made significant progress in recent years, precise identification of AD still faces certain limitations and challenges due to its heterogeneity and complex pathogenesis. It is possible to shift the paradigm and focus on the key "window" of the early stage of AD dementia to achieve breakthroughs. This article is based on MIND-CHINA (randomized controlled Multimodal INterventions to delay Dementia and disability in rural China) to discuss the etiology, prediction, risk-factors assessment, diagnosis, and intervention research of AD, in order to develop AD prediction and prevention strategies that are in line with China′s national conditions, and make a multi-perspective analysis of the current limitations and challenges on AD diagnosis and prevention to promote the future of precision medicine for AD.