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.

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.

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.

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.

The Spectrum of Movement Disorders in Tertiary Care Centers in India: A Tale of Three Cities.

Background: Movement disorders constitute a major burden among the neurological disorders. Overall prevalence and distribution of disorders requiring medical resources remain unknown.

Objective: To understand the pattern of movement disorders burden in India.

Clinical Study of 668 Indian Subjects with Juvenile, Young, and Early Onset Parkinson's Disease.

Objective: To determine the demographic pattern of juvenile-onset parkinsonism (JP, <20 years), young-onset (YOPD, 20-40 years), and early onset (EOPD, 40-50 years) Parkinson's disease (PD) in India.

Materials And Methods: We conducted a 2-year, pan-India, multicenter collaborative study to analyze clinical patterns of JP, YOPD, and EOPD. All patients under follow-up of movement disorders specialists and meeting United Kingdom (UK) Brain Bank criteria for PD were included.

Impact of home confinement during COVID-19 pandemic on sleep parameters in Parkinson's disease.

Background: Literature shows that home confinement during coronavirus disease 2019 (COVID-19) pandemic has significantly affected sleep. However, such information regarding subjects having Parkinson's disease (PD) is unavailable.

Methods: This cross-sectional study was conducted using a questionnaire, developed and validated by experts.

Genetic Architecture of Parkinson's Disease in the Indian Population: Harnessing Genetic Diversity to Address Critical Gaps in Parkinson's Disease Research.

Over the past two decades, our understanding of Parkinson's disease (PD) has been gleaned from the discoveries made in familial and/or sporadic forms of PD in the Caucasian population. The transferability and the clinical utility of genetic discoveries to other ethnically diverse populations are unknown. The Indian population has been under-represented in PD research.

Dyspnea after subthalamic deep brain stimulation in Parkinson's disease: a case-control study.

Objective: Dyspnea can be present as non-motor symptom in patients with Parkinson's disease (PD). Deep brain stimulation (DBS) of the subthalamic nucleus (STN) improves motor and non-motor symptoms in PD. However, new-onset dyspnea has been reported after DBS surgery.

Corrigendum to "Wilson's Disease: Clinical Practice Guidelines of the Indian National Association for the Study of Liver (INASL), The Indian Society of Pediatric Gastroenterology, Hepatology and Nutrition (ISPGHAN) and the Movement Disorders Society of India (MDSI)" [J Clin Exp Hepatol 9 (2019) 74-98].

[This corrects the article DOI: 10.1016/j.jceh.

Wilson's Disease: Clinical Practice Guidelines of the Indian National Association for Study of the Liver, the Indian Society of Pediatric Gastroenterology, Hepatology and Nutrition, and the Movement Disorders Society of India.

Clinical practice guidelines for Wilson's disease (WD) have been published by the American Association for the Study of Liver Diseases and European Association for the Study of the Liver in 2008 and 2012, respectively. Their focus was on the hepatic aspects of the disease. Recently, a position paper on pediatric WD was published by the European Society of Pediatric Gastroenterology Hepatology and Nutrition.

Clustering of motor and nonmotor traits in leucine-rich repeat kinase 2 G2019S Parkinson's disease nonparkinsonian relatives: A multicenter family study.

Objectives: The objective of this study was to determine phenotypic features that differentiate nonparkinsonian first-degree relatives of PD leucine-rich repeat kinase 2 (LRRK2) G2019S multiplex families, regardless of carrier status, from healthy controls because nonparkinsonian individuals in multiplex families seem to share a propensity to present neurological features.

Methods: We included nonparkinsonian first-degree relatives of LRRK2 G2019S familial PD cases and unrelated healthy controls participating in established multiplex family LRRK2 cohorts. Study participants underwent neurologic assessment including cognitive screening, olfaction testing, and questionnaires for daytime sleepiness, depression, and anxiety.

Reversible man-in-the-barrel syndrome in myasthenia gravis.

Man-in-the-barrel syndrome (MBS) is an uncommon presentation due to bilateral, predominantly proximal muscle weakness that has not been described to be associated with myasthenia gravis. We describe a case of myasthenia gravis presenting as MBS. Additionally, he had significant wasting of the deltoids bilaterally with fibrillations on electromyography (EMG) at rest and brief duration (3-6 ms) bi/triphasic motor unit potentials (MUPs) on submaximal effort apart from a decremental response on repetitive nerve stimulation (RNS) at 2 Hz.

Bilateral pedunculopontine nucleus stimulation for progressive supranuclear palsy.

The pedunculopontine nucleus (PPN) is a potential target for gait disorders. We report 4 cases of bilateral PPN stimulation in progressive supranuclear palsy (PSP) patients with short-term (6 months) and long-term (18 months) follow-ups. Patients with PSP who had gait disturbances, but were able to walk with or without assistance, were selected.

The value of GRE, ADC and routine MRI in distinguishing Parkinsonian disorders.

Objectives: To study different radiological signs and sequences including apparent diffusion coefficient (ADC) and gradient echo (GRE) to differentiate degenerative parkinsonian syndromes.

Background: Multiple system atrophy (MSA), Parkinson's disease (PD), progressive supranuclear palsy (PSP) and corticobasal degeneration (CbD) differ in the pattern of neurodegeneration and cellular damage. Measuring the ADC, GRE sequences for paramagnetic substances and simple anatomical assessments have been reported individually to assist in separating some of these disorders, but have not been compared.

Bilateral pallidal stimulation for x-linked dystonia parkinsonism.

Objective: To report the clinical benefits of bilateral deep brain stimulation (DBS) of the globus pallidus internus (GPi) in a patient with X-linked dystonia parkinsonism (XDP).

Design: Case report.

Setting: Tertiary referral center.

Surgical correction of kyphosis in patients with camptocormia due to Parkinson's disease: a retrospective evaluation.

Camptocormia or 'bent spine syndrome' is a rare manifestation of Parkinson's disease. The postural deformity can be a great source of disability. Camptocormia is typically not responsive to dopaminergic medication.

The many faces of corticobasal degeneration.

Corticobasal degeneration (CBD) has characteristic neuropathological features, but is a clinically heterogeneous disorder. It can present with various clinical syndromes. The corticobasal syndrome (CBS) is the best recognized and over the course of the illness may be the most common manifestation.