Diffusion Restriction in Wilson's Disease: A Radiological Pointer Toward Clinically Severe Disease.

Background And Objectives: Wilson's disease (WD) is a rare autosomal recessive disorder due to abnormal hepatic copper transport, leading to copper accumulation in the liver, brain, and other tissues. Although conventional magnetic resonance imaging (MRI) features are valuable for diagnosis, the role of diffusion-weighted imaging (DWI) remains underexplored in WD. The study aims to assess the prevalence and clinical correlates of diffusion restriction on MRI in WD.

Pallidothalamic Tractotomy after Pallidotomy for Medication-Refractory Dystonia: Preliminary Short-Term Results from a Case Series of Five Patients.

Background: There is limited data regarding the role of pallidothalamic tract (PTT) lesioning after failure of pallidotomy.

Objectives: To report the role of unilateral PTT lesioning in refractory generalized dystonia following bilateral pallidotomy and hemi-dystonia following unilateral pallidotomy.

Methods: A single-center retrospective case series.

"Crab sign" in an ataxia patient with central nervous system Erdheim Chester disease: a novel neuroimaging finding with review of literature.

Background: Erdheim-Chester disease (ECD) of the central nervous system is a neoplastic, non-Langerhans cell histiocytosis which can present with a multitude of symptoms. Intra-axial involvement commonly leads to a spastic ataxic syndrome, ophthalmoplegia, and diabetes insipidus while extra-axial involvement manifests as pachymeningitis.

Objectives: To describe a novel imaging sign in Erdheim Chester Disease.

Long-term Probiotics Intervention Facilitates Recovery of Motor and Non-motor Functions by Regulating Inflammation and Modulating Gut-brain Axis in 6-OHDA Rat Model of Parkinson's Disease.

Background: Parkinson's disease (PD) is a neurodegenerative disorder that affects both motor and non-motor functions of the body. Recently, scientists have attributed that gut dysbiosis plays a crucial role in the development and progression of PD.

Purpose: In this study, we aim to determine the role of probiotic supplementation on gut dysbiosis, inflammatory responses at the systemic level, neurodegeneration and motor deficits.

The Expanding Spectrum of Anti-IgLON5 Disease: A Case Series from an Indian Cohort.

Anti-IgLON5 disease is an evolving entity that lies at the confluence of autoimmunity and neurodegeneration. Reports from India remain sparse. In this series, we describe seven Indian patients with anti-IgLON5-related disease.

Deep Learning-Based Artificial Intelligence Algorithm to Classify Tremors from Hand-Drawn Spirals.

Background: No objective biomarkers exist for diagnosing and classifying tremor syndromes.

Objective: The aim was to develop and validate a deep learning (DL) algorithm for classifying tremors from hand-drawn pen-on-paper spirals.

Methods: We recruited participants with dystonic tremor (DT), essential tremor (ET), essential tremor plus (ETP), Parkinson's disease (PD), cerebellar ataxia (AT), and healthy volunteers (HV).

Deciphering the Genetic Architecture of Parkinson's Disease in India.

The genomic landscape of the Indian population, particularly for age-related disorders like Parkinson's disease (PD) remains underrepresented in global research. Genetic variability in PD has been studied predominantly in European populations, offering limited insights into its role within the Indian population. To address this gap, we conducted the first pan-India genomic survey of PD involving 4,806 cases and 6,364 controls, complemented by a meta-analysis integrating summary statistics from a multi-ancestry PD meta-analysis (N=611,485).

CSF1R-Related Adult-Onset Leukoencephalopathy With Axonal Spheroids: A Case Series of Four Asian Indian Patients.

Objective: Colony-stimulating factor 1 receptor-related leukoencephalopathy (CSF1R-L) is a rare adult-onset leukoencephalopathy. Reports of CSF1R-L patients from the Indian subcontinent remain limited. We aimed to report four patients with genetically confirmed CSF1R-L from four Asian Indian families and described their clinical, molecular, and radiological features.

Unprecedented Co-occurrence: Identification of a Pathogenic Genetic Variant in the KMT2B Gene in a Wilson Disease Patient with a Pathogenic ATP7B Mutation.

The pathophysiology of dystonia in Wilson disease (WD) is complex and poorly understood. Copper accumulation in the basal ganglia, disrupts dopaminergic pathways, contributing to dystonia's development via neurotransmitter imbalance. Despite advances in diagnosis and management, WD with dystonia remains a challenging condition to treat.

Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) as a cause of new-onset refractory status epilepticus (NORSE): Case report and review of literature.

Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a rare cause of NORSE. We describe the case of a young girl who presented with NORSE associated with MOGAD along with a systematic review of all cases of NORSE associated with MOGAD till date. Seizures associated with MOGAD are usually associated with good outcome but can occasionally be catastrophic and non-responsive to conventional therapies.

The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population-Scale Data.

Background: Wilson's disease (WD) results from pathogenic ATP7B gene variations, causing copper accumulation mainly in the liver, brain, and kidneys.

Objectives: In India, despite studies on ATP7B variants, WD often goes undiagnosed, with the prevalence, carrier rate, and mutation spectrum remaining unknown.

Methods: A multicenter study examined genetic variations in WD among individuals of Indian origin via whole exome sequencing.

Phenomenological patterns and aetiological spectrum in patients visiting a tertiary care Movement disorders service in India: An observational study.

Objective: Although previous studies have described phenomenological diagnoses, they lacked description of aetiological spectrum in patients visiting movement disorders (MD) service. Herein, we classify the MD phenomenology and describe aetiology wise distribution of each phenomenology in patients visiting a tertiary care movement disorders service.

Methods: Collected information included demographic profile (age of onset, age at presentation, gender, duration of illness before presentation), predominant MD phenomenology [such as parkinsonism, dystonia, ataxia, tremor, chorea, ballism, myoclonus, tics, stereotypy, restless legs syndrome (RLS) and others], diagnostic evaluations and detected aetiology.