Cortical Excitability and Heart Rate Variability in Response to Short Duration Transauricular Vagus Nerve Stimulation in Healthy Adults.

Background: Vagus nerve stimulation (VNS) is approved as an adjunctive therapeutic intervention in neurologic conditions, including epilepsy and primary headache disorders. Transauricular VNS (tVNS) is increasingly used as a method for noninvasively activating the vagus nerve. However, the central neurophysiologic effects of tVNS are not well understood.

Elevated autistic features in Parkinson's disease and other motor disorders.

Biological accounts have suggested an overlap between Parkinson's disease and autism despite their being studied largely at opposite ends of the life course. Characterising this overlap can identify potentially shared aetiologies and care pathways for these conditions. However, this overlap has so far only been tested in older autistic adults who show greater Parkinson's disease traits.

Demographic and Clinical Profiles of Parkinson's Disease in India: Observations from a Nation-Wide Multicenter Study.

Background: Parkinson's disease (PD) phenotype may vary with genetic, ethno-geographic, cultural, and environmental factors.

Objectives: The aim was to develop a clinical database of PD in India and assess the influence of age-at-onset (AAO), gender, and motor subtype on the clinical profile of PD.

Methods: A cross-sectional study of PD was conducted across 18 Indian hospitals.

Association of a kinematic measure of upper limb reaching and StartReact in chronic hemiparetic stroke.

Background: After stroke, recovery of upper limb reaching movements may partly depend on the level of activation of the reticulospinal tract (RST), but few clinical studies have explored this. Here we examined the association between the strength of reticulospinal connections and extent of reaching in post-stroke patients.

Methods: Fifteen patients (all male) with right hemiparesis who had suffered a stroke at least six months prior to the assessment were selected based on predefined selection criteria.

Teaching Video NeuroImage: String Hallucinations in Parkinson Disease.

Statement Of The Clinical Problem Addressed By The Case: String hallucination, a complex multimodal hallucination in patients with advanced Parkinson disease (PD).

Brief Description Of Case Presentation: Two older patients with advanced PD and dementia presented with a peculiar type of hallucination, in the form of seeing and feeling threads on the surfaces or coming out from the fingers. They continued manipulating these imaginary threads before putting them aside.

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).

Progressive Supranuclear Palsy in India: Past, Present, and Future.

Progressive supranuclear palsy (PSP) has emerged as a key area of interest among researchers worldwide, including those in India, who have actively studied the disorder over the past several decades. This review meticulously explores the extensive range of Indian research on PSP up to the present and offers insights into both current initiatives and potential future directions for managing PSP within the region. Historical research contributions have spanned 80 publications from 1974 to 2023, encompassing diverse themes from clinical phenotyping and historical analysis to isolated investigative studies and therapeutic trials.

Non-motor symptoms in patients with Spinocerebellar ataxia type 12.

Introduction: Spinocerebellar ataxia type 12 (SCA12) is a rare autosomal dominant neurodegenerative disorder caused by abnormal CAG repeat expansion in the gene. This disease is classically characterized by action tremor, dysarthria, ataxia, and hyperreflexia. There are limited reports regarding the non-motor symptoms in patients with SCA 12.

Movement disorders in Megalencephalic Leukoencephalopathy with subcortical cysts - A case series.

Background: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) has been described in the literature mostly as early-onset leukodystrophy with cerebellar ataxia being the main clinical phenotype. However, other associated movement disorders have also been reported discretely.

Cases: Here, we present seven cases of MLC.

Cutting Edge: ATP13A2 Is an Endolysosomal Regulator of TLR9/7 Activation in Human Plasmacytoid Dendritic Cells.

ATPase cation transporting 13A2 (ATP13A2) is an endolysosomal P-type ATPase known to be a polyamine transporter, explored mostly in neurons. As endolysosomal functions are also crucial in innate immune cells, we aimed to explore the potential role of ATP13A2 in the human immunocellular compartment. We found that human plasmacytoid dendritic cells (pDCs), the professional type I IFN-producing immune cells, especially have a prominent enrichment of ATP13A2 expression in endolysosomal compartments.

Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India.

Background: Variants in the TUBB4A gene are associated with dystonia (DYT-TUBB4A), Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC) and spastic paraplegia. Phenotypes intermediate to these three broad phenotypes are also observed. These are rare disorders, and data from diverse populations remains limited.

Association of dopamine receptor D3 polymorphism with Levodopa-induced Dyskinesia: A study on Parkinson's disease patients from India.

Introduction: Levodopa-induced dyskinesia (LID) is a debilitating motor feature in a subset of patients with Parkinson's disease (PD) after prolonged therapeutic administration of levodopa. Preliminary animal and human studies are suggestive of a key role of dopamine type 3 (D3) receptor polymorphism (Ser9Gly; rs6280) in LID. Its contribution to development of LID among Indian PD patients has remained relatively unexplored and merits further investigation.

Effects of non-invasive vagus nerve stimulation on clinical symptoms and molecular biomarkers in Parkinson's disease.

Non-invasive vagus nerve stimulation (nVNS) is an established neurostimulation therapy used in the treatment of epilepsy, migraine and cluster headache. In this randomized, double-blind, sham-controlled trial we explored the role of nVNS in the treatment of gait and other motor symptoms in Parkinson's disease (PD) patients. In a subgroup of patients, we measured selected neurotrophins, inflammatory markers and markers of oxidative stress in serum.

Vitamin D deficiency and genetic polymorphisms of vitamin D-associated genes in Parkinson's disease.

Parkinson's disease (PD) and vitamin D share a unique link as vitamin D deficiency (VDD) prevails in PD. Thus, an in-depth understanding of vitamin D biology in PD might be crucial for therapeutic strategies emphasising vitamin D. Specifically, explicating the effect of VDD and genetic polymorphisms of vitamin D-associated genes in PD, like VDR (vitamin D receptor) or GC (vitamin D binding protein) may aid the process along with polymorphisms of vitamin D metabolising genes (e.

Characterizing gait and exploring neuro-morphometry in patients with PSP-Richardson's syndrome and vascular parkinsonism.

Gait differentiation in progressive supranuclear palsy (PSP) and vascular parkinsonism (VaP) is sometimes difficult to detect with the naked eye. Here, we compared specific gait parameters, neuro-morphometric indices, and their associations between patients with PSP Richardson's syndrome (PSP-RS) and VaP. A total of 18 PSP-RS and 13 VaP patients were recruited.

South Asian medical cohorts reveal strong founder effects and high rates of homozygosity.

The benefits of large-scale genetic studies for healthcare of the populations studied are well documented, but these genetic studies have traditionally ignored people from some parts of the world, such as South Asia. Here we describe whole genome sequence (WGS) data from 4806 individuals recruited from the healthcare delivery systems of Pakistan, India and Bangladesh, combined with WGS from 927 individuals from isolated South Asian populations. We characterize population structure in South Asia and describe a genotyping array (SARGAM) and imputation reference panel that are optimized for South Asian genomes.