Annals of Indian Academy of Neurology最新文献

Abstract: Alzheimer's disease (AD) is the most prevalent form of dementia worldwide and the leading cause of disability in the aging population. While several disease-modifying therapies, particularly anti-amyloid monoclonal antibodies, have recently gained approval, their clinical accessibility remains limited, especially in low- and middle-income countries (LMICs). A major prerequisite for initiating these treatments is a biomarker-based diagnosis, typically involving cerebrospinal fluid (CSF) analysis or amyloid/tau positron emission tomography (PET) imaging. However, these biomarkers are often costly, invasive, or unavailable in resource-constrained settings, emphasizing the urgent need for affordable, scalable, and validated biomarkers to enable early and accurate diagnosis and intervention. This review critically examined the current landscape of approved disease-modifying drugs for AD, their efficacy, safety profiles, and implementation challenges in LMICs. It also explored emerging therapeutic strategies beyond amyloid- and tau-targeting agents, including plasma exchange, synaptic modulators, and gene-based approaches. Finally, it discussed the future trajectory of AD therapeutics, emphasizing the necessity of strengthening healthcare systems and developing globally inclusive research frameworks to ensure equitable access to disease-modifying treatments.

Abstract: In humans, body asymmetry might affect vascular asymmetry. This study aimed to examine whether there is a relationship between side asymmetry and the presence of ponticulus posticus (PP) anomaly, carotid, and vertebral artery stenosis. Retrospective analysis was done on the data files of patients with carotid and vertebral arteries who were admitted to our hospital between November 2018 and December 2022 for the presence of PP anomaly. There were 31 patients (25 males and 6 females, with a median age as 69.54 years (range 51-84 years). PP anomaly was detected in 11 of 31 patients (31.48% of cases). The correlation test showed that the presence of PP was negatively correlated with carotid stenosis on the right side, but there was no such correlation on the left. This study demonstrated that there is an innovative anatomical correlation between the PP anomaly and carotid stenosis in the adult patient cohort.

Abstract: GNE myopathy is a rare, adult-onset, autosomal recessive muscle disorder caused by biallelic pathogenic variants in the GNE gene, which encodes a key enzyme in the biosynthesis of sialic acid. Deficient GNE enzyme activity results in decreased production of sialic acid and subsequent hyposialylation of muscle glycoproteins, ultimately leading to progressive muscle degeneration and characteristic histopathological changes. The disease typically presents with progressive distal muscle weakness while sparing the quadriceps until advanced stages. Advances in molecular biology have significantly clarified the underlying disease mechanisms and revealed genotype-phenotype correlations. Natural history studies, supported by patient registries, have detailed the disease course and identified extra-muscular manifestations such as thrombocytopenia and sleep apnea. Multiple therapeutic strategies are under active investigation, including sialic acid supplementation, antioxidant therapy, and gene therapy. Several clinical trials targeting sialic acid biosynthetic pathways, such as oral N-acetylneuraminic acid, ManNAc, and 6'- sialyllactose, have advanced to late-stage development, culminating in the approval of the N-acetyl-neuraminic acid extended-release tablet in Japan in 2024. Other emerging therapeutic approaches, including antioxidant- and gene-based interventions, are also currently being explored. This review synthesizes the current understanding of the molecular pathogenesis of GNE myopathy and highlights recent advances and future prospects in targeted molecular and therapeutic approaches. The ultimate aim is to foster international collaboration toward the development of innovative and effective treatments for GNE myopathy.

Abstract: Stroke remains a leading global cause of mortality and disability, necessitating innovative approaches to address gaps in prevention, acute care, and rehabilitation. This narrative review synthesizes evidence on the transformative potential of wearable technology (WT) across the stroke care continuum and identifies critical challenges to its equitable implementation. A systematic search of PubMed/Medical Literature Analysis and Retrieval System Online (MEDLINE), Scopus, and Google Scholar (up to December 2024) identified 50 studies following Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA)-guided screening and thematic analysis. In prevention, WT facilitates primordial strategies through physical activity tracking and sleep monitoring, while in primary prevention, it enables continuous management of hypertension, atrial fibrillation (AF), diabetes, and sleep apnea. Large-scale trials, such as the Apple Heart Study, validate WT's efficacy in AF detection (84% positive predictive value), though confirmatory medical-grade testing remains essential. For acute care, WT demonstrates promise in early stroke detection through accelerometer-based algorithms and remote neurological assessments. Post-stroke rehabilitation strategies utilize wearable sensors, robotics, and virtual reality to enhance motor recovery, with exoskeletons improving gait speed and sensorimotor feedback increasing upper limb function. Despite these advances, critical barriers persist: fragmented evidence from heterogeneous studies, scarce randomized controlled trials evaluating long-term outcomes, and ethical concerns regarding data privacy and algorithmic bias. Socioeconomic disparities further limit access, particularly in low-resource settings where 70% of stroke deaths occur. To realize WT's potential, stakeholders must prioritize pragmatic trials, standardized protocols, affordable designs, and policies aligning innovation with equity. This review underscores WT's role in global stroke care and advocates for collaborative, patient-centered strategies to bridge gaps.