Annals of Indian Academy of Neurology最新文献

Abstract: Atypical parkinsonian disorders (APD), such as progressive supranuclear palsy (PSP), multiple system atrophy (MSA), corticobasal syndrome (CBS), and Lewy body dementia (LBD) are frequently misdiagnosed, commonly as Parkinson's disease (PD). The study aims to assess the utility of the interpeduncular angle (IPA) in distinguishing APD from PD across age ranges. This retrospective study was conducted with 225 patients (75 with APD, 75 with PD, and 75 healthy controls). Patients were categorized into three age groups: (51-60, 61-70, and 71-80 years). Two independent raters measured the IPA from T1-weighted axial brain magnetic resonance images (MRIs) at a level below the mammillary bodies using standardized measurement techniques. The APD group included 51 (68%) with PSP, 16 (21.33%) with MSA, 5 (6.67%) with LBD, and 3 (4%) with CBS. Bland-Altman analysis for angle measurement suggested good to excellent agreement between raters (P < 0.001). IPA measurements among the different diagnostic groups showed that PSP was higher than controls (P < 0.001) and PD (P < 0.001), and MSA was higher than controls (P < 0.001) and PD (P = 0.003). There was no significant association between IPA and age in the APD phenotypes. With increasing age, the significance between APD and IPD groups decreased (P < 0.001 in 51-60 years to P = 0.686 in 71-80 years). Receiver Operating Characteristic (ROC) analysis revealed increasing IPA thresholds for PSP versus PD (67.66° in 51-60 years to 75.71° in 71-80 years). IPA is not reliable in differentiating APD, particularly PSP and MSA, from PD and controls.

Abstract: Andersen-Tawil syndrome (ATS) is a rare genetic disorder characterized by a triad of periodic paralysis, cardiac arrhythmias, and dysmorphic features, typically presenting in the first two decades of life. A 45-year-old man presented with acute lower motor neuron-type quadriparesis. He reported similar self-resolving episodes over the past 2 years, triggered by rest after exercise. There were no cardiac symptoms, dysmorphic features, or relevant family history. Biochemical evaluation revealed hypokalemia. Genetic testing confirmed a heterozygous nonsense mutation in the KCNJ2 gene (c.13C>T, p.Arg5Ter). Cardiac and dental evaluations were normal. He was treated with potassium supplementation and later acetazolamide, with no recurrence over 2 years. This case highlights a rare adult-onset presentation of ATS without cardiac or dysmorphic features and a negative family history, contributing to the limited adult ATS literature.

Background and objectives: Migraine is a debilitating neurological disorder affecting 10%-20% of the global population, with significant socioeconomic burdens. Vitamin D deficiency, prevalent in over 1 billion individuals, has been proposed as a modifiable risk factor in migraine management due to its potential role in pain modulation and neuroinflammation. This scoping review aimed to map global vitamin D deficiency prevalence across migraine subtypes and geographic regions, synthesize clinical correlations between vitamin D status and migraine characteristics, and explore heterogeneity in therapeutic evidence across paediatric, chronic, and refractory migraine subgroups.

Methods: A systematic search of PubMed, Scopus, and Embase was conducted, identifying 3,447 records initially. After screening and eligibility assessment, 30 studies were included. These encompassed observational studies (n = 14), randomized controlled trials (n = 9), and systematic reviews (n = 7). Data were synthesized narratively due to clinical heterogeneity and the predominance of cross sectional evidence.

Results: Vitamin D deficiency (serum 25 hydroxyvitamin D [25(OH) D] <20 ng/mL) was highly prevalent among migraine patients (65%-88%), particularly in chronic migraine (80%-92%) and high latitude populations (>40°N: 75%-90%). Inverse correlations were observed between vitamin D levels and headache frequency and disability scores. High dose vitamin D supplementation (≥50,000 IU/week) reduced migraine attacks by 50%-72% in deficient adults, while minimal benefit was seen in replete individuals. Single trials revealed enhanced efficacy when combined with probiotics or topiramate in refractory and paediatric cases, respectively, but this requires further validation.

Conclusion: Vitamin D deficiency is consistently associated with increased migraine burden. Supplementation shows context dependent efficacy, particularly in deficient individuals and specific subgroups. Future research should focus on mechanistic trials, global standardization of assays, and comprehensive outcome assessments. Clinically, baseline 25(OH)D testing is recommended to guide targeted supplementation strategies.

Background and objectives: While the systemic features of dengue are well-documented, its neuromuscular manifestations remain under-characterized. We aimed to systematically review the published literature on the spectrum, clinical features, diagnostics, management, and outcomes of neuromuscular complications associated with dengue infection.

Methods: A comprehensive literature search was conducted in PubMed, Embase, Scopus, and Google Scholar up to March 9, 2025. Case reports, case series, and observational studies reporting individual-level data on dengue-associated neuromuscular complications were included. Data extraction and quality assessment were performed independently by multiple reviewers, and the Preferred Reporting Items for Systematic Reviews and Meta-Analyses framework was followed. The protocol was registered with PROSPERO (Registration ID: CRD420251008871).

Results: A total of 137 articles describing 171 individual patient cases were included. Guillain-Barré syndrome (n = 57), myositis/myopathy (n = 38), rhabdomyolysis (n = 24), and hypokalemia-induced paralysis (n = 31) were the most commonly reported manifestations. Less frequent complications included mononeuropathies, radiculopathy/plexopathy, and neuromuscular junction disorders. Most cases were reported from South and Southeast Asia. The majority of patients responded well to supportive or immunomodulatory therapies. The overall prognosis was favorable, with full or near-complete recovery in most cases.

Conclusions: Dengue can cause a wide range of neuromuscular complications, often requiring early recognition and targeted management. Clinicians should be aware of these manifestations, especially in endemic regions.

Background and objectives: This study aimed to assess the frequency, characteristics, and clinical associations of mirror movements in individuals with Parkinson's disease, considering factors such as age, side of symptom onset, disease severity, and motor asymmetry.

Methods: This cross-sectional observational study included 87 individuals with Parkinson's disease, diagnosed according to Movement Disorder Society criteria. Exclusion criteria included atypical Parkinsonism, dementia, and refusal to consent. Mirror movements were assessed using video-recorded standardized tasks and scored with the Woods Teuber scale. Clinical parameters, including the Unified Parkinson's Disease Rating Scale (UPDRS-III), Hoehn and Yahr scale (H and Y staging), and lateralized motor severity, were analyzed. Statistical correlations were performed using SPSS version 26.

Results: Mirror movements were observed in 65.5% of participants, predominantly affecting the upper limbs (98% in fingers). The frequency of mirror movements increased with age (84.6% in those aged 70-90 years, P = 0.04) and was significantly higher in individuals with left-sided symptom onset (74.1% vs. 51.5%, P = 0.03). The severity of mirroring correlated with the side of disease onset and greater lateral differences in UPDRS motor scores (>30, P = 0.015). A rare subtype of discordant mirror movements (non-homologous movements) was identified in 8.2% of individuals.

Conclusions: Mirror movements are a frequent and underrecognized feature in individuals with Parkinson's disease. Their clinical associations indicate a greater frequency in older individuals, those with left-sided onset, and those with more asymmetric motor involvement. These findings highlight the potential utility of mirror movements as a clinical biomarker for disease lateralization and progression. Further research, including functional imaging studies, is warranted to elucidate the underlying mechanisms.