Publications by authors named "Soaham Desai"

Diabetes and Hyperlipidemia are major risk factors for stroke across the world population. TCF7L2, a key regulator of the WNT signaling pathway shows genetic association with these metabolic disorders in ethnicity dependant manner. However, its role in stroke pathogenesis (if any) is not well characterized.

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Epilepsy-dyskinesia syndromes (EDS) are a complex group of neurogenetic disorders characterized by the co-occurrence of epilepsy and movement disorders. Despite their increasing clinical recognition, the molecular and clinical spectrum of EDS remain poorly understood. While numerous genetic etiologies have been implicated, systematic characterization across diverse populations is lacking.

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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.

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Stroke remains a leading global cause of mortality and disability, necessitating innovative approaches to address gaps in prevention, acute care, and rehabilitation. This narrative review synthesizes evidence on the transformative potential of wearable technology (WT) across the stroke care continuum and identifies critical challenges to its equitable implementation. A systematic search of PubMed/Medical Literature Analysis and Retrieval System Online (MEDLINE), Scopus, and Google Scholar (up to December 2024) identified 50 studies following Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA)-guided screening and thematic analysis.

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By the current estimates, India is likely to face an alarmingly high burden of Parkinson's disease (PD) in the next two decades. Untangling the pathophysiology of PD through genetic research is the key to precision medicine and prevention strategies. This narrative review serves dual purpose of recapitulating phenomenology of monogenic diseases presenting with parkinsonism and synthesizing knowledge on PD genetics gained through research in India over the past two decades.

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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.

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Background: Tuberculosis (TB) of the central nervous system (CNS) is a severe complication of TB, with movement disorders representing an under-recognized yet impactful manifestation. Despite their clinical significance, knowledge gaps persist in epidemiology, pathophysiology, and management of TB-related movement disorders (TBRMDs).

Objective: This scoping review synthesizes evidence on TBRMDs, aiming to characterize their spectrum, evaluate diagnostic approaches, and summarize management strategies and outcomes.

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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).

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Movement disorders after dengue virus (DENV) infection have been increasingly recognized. We aimed to synthesize the clinical and paraclinical characteristics, treatment responses, and outcomes of these neurologic complications. We systematically reviewed PubMed, Embase, Scopus, and LILACS databases up to September 2023 following a published protocol.

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Rationale: Early mortality in intracerebral hemorrhage (ICH) is due to hematoma volume (HV) expansion, and there are no effective treatments available other than reduction in blood pressure. Tranexamic acid (TXA) a hemostatic drug that is widely available and safe can be a cost-effective treatment for ICH, if proven efficacious.

Hypothesis: Administration of TXA in ICH patients when given within 4.

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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.

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Background: Tenecteplase has been approved for acute ischemic stroke at a dose of 0.2 mg/kg by the Indian licensing authority. A registry to evaluate the safety of tenecteplase was mandated by the licensing authority.

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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.

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Non-parkinsonian tremors represent a heterogeneous spectrum of movement disorders where knowledge gaps persist regarding epidemiology, pathophysiology, and clinical burden. This scoping review aimed to systematically consolidate literature on these disorders in India across the domains of prevalence, biological mechanisms, psychiatric comorbidity, disability impact, and quality of life. A systematic search was undertaken across databases to identify studies on non-parkinsonian tremors in India.

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Background: Infection-related movement disorders (IRMD) present a complex diagnostic challenge due to the broad phenotypic spectrum, the variety of possible infectious aetiologies, and the complicated underlying mechanisms. Yet, a comprehensive framework for classifying IRMD is lacking.

Methods: An international consensus panel under the directives of the Movement Disorders Society Infection-Related Movement Disorders Study Group developed a comprehensive definition and a consensus classification system.

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Article Synopsis
  • Recent research has pinpointed over 20 genes linked to Parkinson's disease (PD), yet most studies have concentrated on European populations, leaving a gap in understanding PD genetics in other regions, particularly South Asia.
  • The study recruited 674 PD patients, mostly under 50 years old, and 1,376 control subjects from India to investigate genetic risk factors, finding significant results in the SNCA region that aligns with European PD studies.
  • Notably, cases with specific gene mutations had lower overall genetic risk scores and the research identifies a link to the BSN gene, previously associated with neurodegenerative diseases, marking the largest genetic study of PD in South Asia and highlighting the need for further research in this area.
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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.

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Background: India has a high burden of stroke, but there are limited data available on the characteristics of patients presenting with stroke in India.

Aims: We aimed to document the clinical characteristics, practice patterns, and outcomes of patients presenting with acute stroke to Indian hospitals.

Methods: A prospective registry study of patients admitted with acute clinical stroke was conducted in 62 centers across different regions in India between 2009 and 2013.

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Article Synopsis
  • Neurological symptoms, including movement disorders, are common in patients with acute COVID-19, but information on their long-term outcomes is limited.
  • A study found that movement disorders typically start about 12.6 days after the initial COVID-19 symptoms, with 92% of affected patients needing hospitalization for an average of 23 days.
  • Overall, most patients recover fully within a few weeks or months, but some may experience persistent movement disorders, potentially revealing or exacerbating underlying issues.
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Introduction/aims: Studies conducted during the coronavirus disease 2019 (COVID-19) pandemic have reported varied data regarding the incidence of Guillain-Barre syndrome (GBS). The present study investigated demographic and clinical features, management, and outcomes of patients with GBS during a specified period of the COVID-19 pandemic, and compared these features to those of GBS in the previous year.

Methods: A multicenter, ambispective cohort study including 26 centers across India was conducted.

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Background And Aims: Headache disorders cause significant distress in patients living with epilepsy (PWE) and are underreported. This study aimed to evaluate the prevalence of various forms of headache in PWE.

Methodology: Two hundred and three PWE were evaluated for the presence and type of headache as per the International Classification of Headache Disorders (ICHD)-3 classification criteria.

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Article Synopsis
  • The study aimed to explore how SARS-CoV-2 infection affects sleep disorders, specifically insomnia, restless legs syndrome (RLS), and dream enactment behavior (DEB), highlighting a gap in existing literature.
  • Out of 1,596 participants, 37.2% reported disturbed sleep, with 22.6% experiencing insomnia, 27.3% RLS, and 17.4% DEB, with higher rates observed in males and those infected with SARS-CoV-2.
  • The findings suggest a significant association between SARS-CoV-2 infection and increased occurrences of these sleep disorders, particularly among those facing additional health challenges like oxygen therapy, loss of taste/smell, depression, and anxiety
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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.

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