An Effort to Identify Genetic Determinants in Siblings With Wilson Disease Manifesting Striking Clinical Heterogeneity: An Exome Profiling Study of Two Indian Families.

Background: Wilson disease (WD) is a rare autosomal recessive disorder of copper metabolism caused due to mutations in the copper transporter ATP7B. There is often a striking variability of clinical manifestations among patients with ATP7B mutations, including in siblings. This phenomenon may be caused by individual differences in copper accumulation in hepatocytes and intolerance to copper toxicity as governed by genetic variations in copper metabolism genes acting as modifier loci to the disease.

RE-OPEN: Randomised trial of biosimilar TNK versus TPA during endovascular therapy for acute ischaemic stroke due to large vessel occlusions.

Rationale: Rapid and timely treatment with intravenous thrombolysis and endovascular treatment (EVT) in patients with acute ischaemic stroke (AIS) and large vessel occlusion (LVO) significantly improves patient outcomes. Bridging therapy is the current standard of care in these patients. However, an incompletely answered question is whether one thrombolytic agent is better than another during bridging therapy.

Illiterate Addenbrooke's Cognitive Examination-III in Three Indian Languages: An Adaptation and Validation Study.

Background: Literacy is an important factor that predicts cognitive performance. Existing cognitive screening tools are validated only in educated populations and are not appropriate for older adults with little or no education leading to poor performance on these tests and eventually leading to misdiagnosis. This challenge for clinicians necessitates a screening tool suitable for illiterate or low-literate older individuals.

Expanding the Spectrum of Diabetic Striatopathy: Insights from a Case of Hyperglycemia-Induced Propriospinal Myoclonus.

This video abstract delves into the expanded definition of diabetic striatopathy, linked initially to hyperglycemia-induced choreoballism and striatal hyperintensity on magnetic resonance imaging, but now recognized to encompass a broader range of acute onset, non-choreoballistic movement disorders in diabetes mellitus, including tremors, hemifacial spasm, parkinsonism, different types of myoclonus, dystonia, restless leg syndrome, ataxia, and dyskinesias. We report the case of a 45-year-old female patient with type-2 diabetes mellitus who developed propriospinal myoclonus, characterized by painless, involuntary jerky movements of the bilateral lower limbs in a supine position after admission for suspected rhino-orbital mucormycosis. The abnormal movements resolved entirely following the control of her blood glucose levels, suggesting a direct correlation between hyperglycemia and the clinical picture.

The Spectrum of Intracranial Hypertrophic Pachymeningitis at an Eastern Indian Tertiary Care Center.

Introduction: Hypertrophic pachymeningitis (HP) is a treatable, rare inflammatory disease, either primary or secondary to systemic causes.

Aims: To characterize the etiology, clinical manifestations, and treatment outcomes of HP patients and determine the factors influencing the radiological resolution of the pachymeningeal enhancement and recurrence of symptoms within the follow-up period.

Materials And Methods: We collected data for this prospective observational study between March 1, 2021 and May 31, 2022, at the Bangur Institute of Neurosciences, Kolkata, and the patients were followed for a 6-month period.

Arg4810Lys mutation in RNF213 among Eastern Indian non-MMD ischemic stroke patients: a genotype-phenotype correlation.

Introduction: RNF213 mutations have been reported mostly in moyamoya disease (MMD) with varying frequencies across different ethnicities. However, its prevalence in non-MMD adult-onset ischemic stroke is still not well explored.

Aims And Objectives: This present study thus aims to screen the most common RNF213 variant (Arg4810Lys, among East Asians) in the Eastern Indian non-MMD ischemic stroke patients and correlate it with long-term progression and prognosis of the patients.