Annals of Indian Academy of Neurology最新文献

Background and objectives: Small fiber neuropathy cannot be detected using conventional nerve conduction studies. The use of the cutaneous silent period (CSP) could represent an effective non-invasive test in evaluating the small nerve fibers. The current work aimed to evaluate the CSP among healthy individuals across different decades and assess the effect of gender on CSP values.

Methods: 71 healthy volunteers with an age range of 20-60 years were included in this study. Several CSP parameters were measured, including CSP latencies and duration of the median, ulnar, and sural nerves.

Results: We obtained the mean CSP parameters for the mentioned upper and lower limb nerves across different decades. Age had a significant impact on CSP latencies. Males showed longer latencies than females. No significant inter-side CSP difference was noted.

Conclusion: The CSP test is a non-invasive tolerable test and could serve as an important addition to routine electrophysiological examination. The age and gender significantly impact the CSP latency. The establishment of normative data and an understanding of the effects of age and gender is essential for proper employment.

Background and objectives: Stroke is the second leading cause of death worldwide, and only 10% of the patients can live their normal lives. As per the Global Burden of Disease Study 2016, the incidence of stroke in India is reported to be 1,175,778 (1 076 048 to 1,274,427) per 100000 person-years. A novel biochemical marker that can predict the stroke outcome can reduce morbidity, especially when thrombolysis cannot be done. Hence, the current study aims to study the role of plasma lysophosphatidic acid (LPA) and CD62P as prognostic markers for acute ischemic stroke.

Methods: This is a prospective observational study. Ninety-six patients who met the inclusion criteria were enrolled. The plasma LPA and CD62P levels were estimated using the enzyme-linked immunosorbent assay and correlated with the Alberta stroke program early computed tomography score (ASPECTS) on CT brain and modified Rankin scale (mRS) at 90 days.

Results: Age, sex, and other risk factors in the ischemic stroke patients did not have any impact on the levels of LPA and CD62P. Both LPA ( P = 0.000) and CD62P ( P = 0.005) showed a positive correlation with mRS after 90 days. The mean LPA was highest for mRS 5 and least for mRS 1, whereas the mean CD62P levels did not correlate with increasing mRS. The ASPECTS showed a significant negative correlation only with LPA.

Conclusions: High LPS and CD62P levels after stroke onset tend to be associated with poor mRS scores at 90 days.

Background: Isolated dystonia, a neurological disorder characterized by abnormal postures and repetitive movements, has a complex etiology involving both genetic and environmental factors. While genetic contributions are acknowledged, the role of environmental triggers in disease expression remains understudied.

Methods: This scoping review adhered to the Preferred Reporting Items for Systematic reviews and Meta-Analyses Extension for Scoping Reviews (PRISMA-ScR) guidelines and systematically mapped evidence on environmental risk factors for isolated dystonia. A comprehensive search of PubMed/MEDLINE, Web of Science, and Google Scholar from the years 1980 to 2024 identified studies meeting predefined eligibility criteria. Data were extracted using standardized templates, and quality was assessed using the modified Newcastle-Ottawa Scale (NOS).

Results: Nineteen studies met inclusion criteria, with NOS scores ranging from 4/9 to 8/9. Strong associations were identified between peripheral trauma and cervical dystonia (odds ratio), and between prolonged writing (>3 hours/day) and writer's cramp. Moderate associations were found between cranial trauma and blepharospasm and betel nut consumption with oromandibular dystonia. Conversely, tobacco use showed a protective effect against blepharospasm. Early-life exposures demonstrated weak or inconclusive associations, while gene-environment interactions revealed accelerated symptom onset in DYT1 mutation carriers exposed to repetitive tasks ( P = 0.03).

Conclusions: Environmental factors significantly influence the pathogenesis of isolated dystonia through circuit-specific mechanisms. Trauma, occupational exposures, and lifestyle factors emerge as key determinants. These findings highlight significant environmental determinants but also underscore the need for standardized exposure metrics and prospective investigations due to methodological heterogeneity across studies.

Background and objectives: To compare the efficacy and safety of telitacicept versus mycophenolate mofetil (MMF) in reducing relapses and disability in adults with neuromyelitis optica spectrum disorder (NMOSD).

Methods: In this retrospective cohort study, we analyzed 41 adults with NMOSD (2015 diagnostic criteria). Patients received ≥6 months of telitacicept or MMF treatment. Primary outcomes were annualized relapse rate (ARR) and relapse-free survival; secondary outcomes included Expanded Disability Status Scale (EDSS) score, CD19 + B-cell count, and safety.

Results: Over a median follow-up of 8 months for telitacicept (n = 15) and 9 months for MMF (n = 26), patients receiving telitacicept exhibited an 86.7% relapse-free rate (13/15) versus 57.6% (15/26) with MMF, with a significantly prolonged time to first relapse (hazard ratio 0.22, 95% confidence interval: 0.05-0.91; P = 0.04). The magnitude of ARR reduction was significantly greater with telitacicept (median ΔARR 2.0 [interquartile range (IQR) 2.0-4.0]) than with MMF (2.0 [1.0-2.0]; P = 0.007). Neurological function improved markedly, evidenced by a 2.5-point reduction (IQR: 2.0-3.0) in EDSS scores with telitacicept versus 0.5 points (IQR: 0.5-1.0) for MMF ( P < 0.001). Mechanistically, telitacicept induced deeper CD19 + B-cell suppression (Δ51.0 cells/μL [42.0-70.0]) than MMF (Δ28.5 cells/μL [8.0-40.2]; P = 0.002). Safety profiles favored telitacicept, with adverse events occurring in 20.0% (3/15) versus 42.3% (11/26) in the MMF group, though no severe events were observed in either cohort.

Conclusion: Both telitacicept and MMF demonstrated favorable clinical efficacy and safety in NMOSD treatment. Compared with MMF, telitacicept exhibits potential advantages and holds promising prospects for clinical application.

Abstract: Hereditary ataxias are a group of disorders characterized by clinical manifestations of cerebellar degeneration. Autosomal dominant and recessive forms have been described, and tandem nucleotide repeat expansion are the most prevalent forms of genetic ataxias. In this study, we aimed to characterize single nucleotide mutations in key genes ( SETX , SACS , ATM , AFG3L2 , TTBK2 , and ELOVL5 ) in 230 patients with progressive ataxias. We identified a total of 180 variants, including 8% loss-of-function (LoF) mutations and 39% nonsynonymous substitutions. Pathogenic or likely pathogenic variations were found in 14 subjects (6%), with mutations most frequently observed in ATM and AFG3L2 . Burden analysis showed an increased burden of LoF variation in patients than in controls, with major contribution from the ATM gene. Our findings emphasize the genetic heterogeneity and requirement of a broader panel for identification of diagnostic variations, and underscore the necessity of functional studies to improve genetic diagnosis in hereditary ataxias.