Progressive Supranuclear Palsy-A Global Review.

Background: Progressive Supranuclear Palsy (PSP) is a rare and severe neurodegenerative tauopathy characterized by diverse clinical phenotypes, including Richardson's syndrome (PSP-RS), PSP-parkinsonism (PSP-P), PSP-progressive gait freezing (PSP-PGF), and PSP-corticobasal syndrome (PSP-CBS). Significant geographic variation exists in prevalence, clinical presentations, and prognosis.

Objectives: This global review aims to systematically evaluate the epidemiological variation, clinical phenotypes, diagnostic practices, and management strategies for PSP, focusing on regional disparities and identifying influencing genetic and environmental factors.

TMEM151A-related Paroxysmal Kinesigenic Dyskinesia in first two Indian families.

The pathogenic variants of TMEM151A are known to be the genetic cause for Paroxysmal Kinesigenic Dyskinesia apart from PRRT2 variants. Through whole exome sequencing, we identified a known variant (c.368G > C; p.

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.

Barriers to providing movement disorders care in India.

Purpose Of Review: Movement disorders (MD) represent a growing healthcare challenge in India, where a diverse population and limited resources complicate diagnosis and management. This review aims to identify and categorize the systemic, socio-economic, cultural, educational, and infrastructural barriers impeding timely and effective MD care, drawing on literature spanning rural and urban contexts.

Recent Findings: Recent studies show low awareness of MD treatments - such as deep brain stimulation and botulinum toxin therapy - among both patients and clinicians.

Bassoon, Presynaptic Scaffolding Protein: Narrative Review in Health and Disease.

The release of synaptic vesicles (SVs) at the synaptic junction is a complex process involving various specialized proteins that work in unison. Among these, Bassoon has emerged as a significant protein, particularly noted for its association with various neurological and aging-related diseases. Due to its structural and functional roles, Bassoon has become a focus of recent research, especially in understanding its implications in neurodegenerative and psychiatric disorders.

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.

Levodopa Equivalent Daily Dosage: Geographical Variations and Real-Life Modules in Parkinson's Disease.

Background: The Levodopa Equivalent Daily Dosage (LEDD) calculation algorithms help in capturing and harmonization of Parkinson's Disease (PD) therapies. Analyzing these updates is essential for validating their effectiveness.

Objective: To assess updated LEDD conversion factors in capturing the newer therapies in PD and therapy modules in different geographical cohorts.

Continuous Subcutaneous Infusion Delivery of Apomorphine in Parkinson's Disease: A Systematic Review.

Background: Continuous subcutaneous apomorphine infusion (CSAI) is one of the advanced therapies for Parkinson's disease (PD).

Methods: A systematic review of all published articles in English on CSAI for PD till January 30, 2022 was conducted.

Results: A total of 82 articles met the search criteria.

Task-specific oromandibular dystonia secondary to chewing Khat (Catha edulis)- A series of 35 cases.

Background: The leaves of "Khat" (Catha edulis), an indigenous shrub of Yemen and Arabian Peninsula are habitually chewed by the inhabitants for psychostimulant properties.

Objective: To describe a unique task specific Oro-mandibular dystonia (OMD) in Yemenese men, with a temporal association with chewing "Khat".

Methods: Multicentric, retrospective analysis (2009-2020) of patients with OMD associated with "Khat" chewing, evaluating clinical features and response to Onabotulinum toxin A.

Historical and More Common Nongenetic Movement Disorders From Asia.

Nongenetic movement disorders are common throughout the world. The movement disorders encountered may vary depending on the prevalence of certain disorders across various geographical regions. In this paper, we review historical and more common nongenetic movement disorders in Asia.

Levodopa Dose Equivalency in Parkinson's Disease: Updated Systematic Review and Proposals.

Background: To compare drug regimens across clinical trials in Parkinson's disease (PD) conversion formulae between antiparkinsonian drugs have been developed. These are reported in relation to levodopa as the benchmark drug in PD pharmacotherapy as 'levodopa equivalent dose' (LED). Currently, the LED conversion formulae proposed in 2010 by Tomlinson et al.

COVID-19: The cynosure of rise of Parkinson's disease.

Parkinson's disease (PD) is one of the most common age-related disorders globally. The pathophysiological mechanisms and precipitating factors underlying PD manifestations, including genetic and environmental parameters, inflammation/stress and ageing, remain elusive. Speculations about whether the Coronavirus Disease 2019 (Covid-19) pandemic could be a pivotal factor in affecting the prevalence and severity of PD or triggering a wave of new-onset parkinsonism in both the near and distant future have recently become very popular, with researchers wondering if there is a changing trend in current parkinsonism cases.

Underrepresented Populations in Parkinson's Genetics Research: Current Landscape and Future Directions.

Background: Human genetics research lacks diversity; over 80% of genome-wide association studies have been conducted on individuals of European ancestry. In addition to limiting insights regarding disease mechanisms, disproportionate representation can create disparities preventing equitable implementation of personalized medicine.

Objective: This systematic review provides an overview of research involving Parkinson's disease (PD) genetics in underrepresented populations (URP) and sets a baseline to measure the future impact of current efforts in those populations.

Genome-Wide Polygenic Score Predicts Large Number of High Risk Individuals in Monogenic Undiagnosed Young Onset Parkinson's Disease Patients from India.

Parkinson's disease (PD) is a genetically heterogeneous neurodegenerative disease with poorly defined environmental influences. Genomic studies of PD patients have identified disease-relevant monogenic genes, rare variants of significance, and polygenic risk-associated variants. In this study, whole genome sequencing data from 90 young onset Parkinson's disease (YOPD) individuals are analyzed for both monogenic and polygenic risk.