Annals of Indian Academy of Neurology最新文献

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.

Triosephosphate isomerase (TPI) deficiency is a rare autosomal recessive disorder caused by mutations in the TPI1 gene, typically presenting with anemia, infections, and neurological decline. We report three siblings with a homozygous c.718G>A (p.Glu240Lys) variant presenting predominantly with dystonia. Clinical and genetic evaluations were performed in three affected siblings from a consanguineous Turkish family. Neurological examinations, imaging, and surgical outcomes were reviewed. All three siblings exhibited truncal and axial dystonia with orthopedic deformities but without anemia or cardiac involvement. Cognitive functions were preserved. Two underwent bilateral deep brain stimulation of the globus pallidus internus (GPi-DBS), resulting in partial yet clinically meaningful improvement in posture and gait. The third sibling received orthopedic interventions. Notably, one homozygous sibling remained asymptomatic, highlighting incomplete penetrance. This is the first genetically confirmed report of TPI1 -associated dystonia treated with GPi-DBS. Our findings expand the clinical spectrum of TPI deficiency, showing a neurologically predominant phenotype without hematologic manifestations. The observed variability suggests the role of modifier factors, and GPi-DBS may provide symptomatic benefit in severe cases.

Background and objectives: Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) are inflammatory conditions, representing prototype examples of immune-mediated disorders of the peripheral nervous system. Activation of the nuclear factor-κB (NF-κB) pathway is crucial for generating immune and inflammatory responses and creating an inflammatory milieu; however, this has not been studied in inflammatory neuropathies. We aimed to quantify the expression levels of two critical genes in the NF-κB pathway ( Nfkb1 and Nfkb2 ), together with a prototype inflammatory gene, Tnfα , in inflammatory neuropathies.

Methods: Forty-nine patients with inflammatory neuropathies (GBS = 38, CIDP = 11) were recruited prospectively from a single neurology unit. Gene expression levels of Nf κ b1 , Nf κ b2 , and Tnfα were quantified using quantitative real-time polymerase chain reaction.

Results: There were significantly increased expression levels of Nf κ b1 in the inflammatory neuropathy group compared to healthy controls ( P = 0.001), GBS versus healthy controls ( P = 0.03), and CIDP versus healthy controls ( P = 0.003). There were no significant differences in the expression levels of Nf κ b2 and Tnfα genes between cases and controls. There was no correlation between the expression levels of these genes and the clinical severity scores.

Conclusions: The present study provides evidence for NF-κB pathway activation in inflammatory neuropathies, including both GBS and CIDP, suggesting that this spectrum of disorders may share a common central pathway for immune activation. Thus, the NF-κB pathway plays a critical role in the immunopathogenesis of inflammatory neuropathies; however, the molecular interacting partners within the immune system need to be studied to identify the differential immune trajectories in GBS and CIDP.