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Introduction
Publications
Publications (436)
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 proto...
Background
Dexamethasone sodium phosphate (DSP) encapsulated in autologous erythrocytes (EryDex) was developed as an alternative to standard glucocorticoids in an effort to eliminate chronic steroid toxicity while preserving efficacy. The primary objective of this report is to describe the safety of long-term use of EryDex in treatment of pediatric...
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurodegenerative disorder characterized by spastic paraplegia, parkinsonism and psychiatric and/or behavioral symptoms caused by variants in gene encoding chromosome-19 open reading frame-12 (C19orf12). We present here seven patients from six unrelated families with detai...
Background and Objectives:
Psychosis is one of the major neuropsychiatric non-motor symptoms of Parkinson’s disease (PD). Prolonged latency and decreased amplitude of the P300 event-related potential (ERP) is a potential neurophysiologic biomarker of deeper neurocognitive deficits in PD. We aimed to characterize electroencephalogram (EEG)/ERP para...
Facial myokymia is a rare clinical condition that manifests as subtle, involuntary and undulating “bag of worm-” like facial movements that is pathognomonic for brainstem pathology. Although most commonly the result of demyelinating disorders such as multiple sclerosis, it rarely portends a space-occupying lesion in the brainstem, with isolated cas...
Background
Dystonia is a common hyperkinetic movement disorder observed in various genetic, infective, drug-induced, and autoimmune disorders. Autoimmune disorders can present with isolated or combined acute or subacute dystonia. The pattern and approach to dystonia in autoimmune disorders are poorly described and have never been established in a s...
Background and Objectives
Sleep-disordered breathing (SDB) is characterized by pauses or shallow breathing during sleep. It is linked to poorer outcomes and increased stroke recurrence in stroke patients. We aimed to evaluate the proportion, severity, type, and evolution of SDB and arousals in ischemic stroke patients.
Methods
Ischemic stroke pati...
Background: A key factor in the propagation of α-synuclein pathology is the compromised protein quality control system. Variations in membrane association and astrocytic uptake between different α-synuclein forms suggest differences in exocytosis or membrane cleavage, potentially impacting the secretome's influence on dopaminergic neurons. We aimed...
Background
A key factor in the propagation of α-synuclein pathology is the compromised protein quality control system. Variations in membrane association and astrocytic uptake between different α-synuclein forms suggest differences in exocytosis or membrane cleavage, potentially impacting the secretome's influence on dopaminergic neurons. We aimed...
Despite extensive research, there is an unmet need for developing disease-modifying therapies for Parkinson’s disease (PD). Failure of certain landmark clinical trials has highlighted the need for a better understanding of the disease pathogenesis as well as identifying the hurdles in developing drug candidates and designing clinical trials. While...
Our study aimed to assess the prevalence and determinants of sleep disturbances among pregnant women in Kolar District, Karnataka, India. It focused on specific disturbances, such as obstructive sleep apnea (OSA), insomnia, restless leg syndrome (RLS), excessive daytime sleepiness (EDS), and poor sleep quality across pregnancy trimesters. A cross-s...
Objective In this study, we describe the clinical and investigative profiles of 7 cases of autosomal-recessive spastic ataxia of Charlevoix–Saguenay (ARSACS).Methods We performed a retrospective chart review of genetically proven cases of ARSACS from our database. Additionally, we reviewed the literature for reported cases of ARSACS from India.Resu...
Objective:
To explore sleep patterns in individuals with Essential Tremor (ET) and Essential Tremor Plus (ET-Plus), compared to healthy controls, and assess differences between ET and ET-Plus, given the lack of established polysomnography (PSG) data on these groups and the potential for sleep disturbances to serve as clinical markers.
Methods:
W...
Sleep Profiles in patients with Essential Tremor and Essential Tremor Plus: Polysomnography Insights.
BACKGROUND: Wilson disease (WD) is a rare disease characterized by impaired copper metabolism. It is usually diagnosed in children and has several distinct attributes that can make the caregiving experience different. The advanced stage of the illness is quite challenging, and caregiver experiences during this phase of the disease are underexplored...
Background:
Recessive variants in the PINK1 gene is a known cause of early-onset Parkinson's disease (EOPD).
Objective:
To describe the clinical features and genetic profile of patients of PARK-PINK1.
Methods:
Retrospective chart review of demographic, clinical and genetic details of patients carrying biallelic PINK1 variants from our database...
Pain is an important manifestation of Parkinson’s Disease, with multiple mechanisms independently contributing to it. Here, we describe a case with predominant nociplastic pain. A 62-year-old woman with advanced Parkinson’s disease with motor fluctuations presented with a 6-month history of incapacitating pain. She described it as a burning sensati...
Background
Multiple system atrophy (MSA) is a rare, adult-onset neurodegenerative disorder marked by autonomic failure, parkinsonism, and cerebellar ataxia, with subtypes classified as parkinsonian (MSA-P), cerebellar (MSA-C), and autonomic (MSA-A). This study aims to identify MRI biomarkers for MSA and their correlation with disease severity.
Meth...
Background
Despite being the second most common type of neurodegeneration with brain iron accumulation, there is limited literature on PLA2G6-associated neurodegeneration (PLAN) within the Asian ethnicity, particularly in the Indian context.
Methods
We conducted a retrospective observational study on patients with pathogenic/likely pathogenic PLA2...
Objectives
Neurodegenerative disorders necessitate comprehensive palliative care due to their progressive and irreversible nature. Limited studies have explored the comprehensive assessment needs of this population. This present study is designed to develop a checklist for evaluating the palliative care needs of individuals with motor neuron diseas...
BACKGROUND
Cohort-based studies on onconeural antibody-associated cerebellar ataxia (CA) investigating the immunological and radiological spectrum as well as functional outcomes are limited.
OBJECTIVE
To study the clinical, radiological, and immunological spectrum, as well as the treatment profile and outcomes, of onconeural antibody-associated CA...
BACKGROUND
Primary hemifacial spasm (HFS) is caused by neurovascular conflict (NVC) at the root entry zone of the facial nerve. The literature on non-motor symptoms (NMS) in HFS is limited.
OBJECTIVE
Study aimed to assess NMS in patients with primary HFS.
METHODS
A cross-sectional, hospital-based, case-control study recruited 50 patients with pri...
Background and Objective
Primary hemifacial spasm (HFS) is caused by neurovascular conflict (NVC) at the root entry zone of the facial nerve. Whether reduction of posterior cranial fossa (PCF) cerebrospinal fluid (CSF) volume is a risk factor for HFS is not clear. The study aims at the radiologic assessment of PCF CSF volume and its clinical correl...
The neurovascular conflict (NVC) causing hemifacial spasm (HFS) can also cause compression of ventrolateral medulla (VLM) which contains the central sympathetic neurons. VLM compression has been associated with hypertension. Whether the VLM compression in HFS patients is associated with hypertension is not clear.
To determine the frequency, severit...
Background:
Abnormalities in ataxin-2 associated with spinocerebellar ataxia type 2 (SCA2) may lead to widespread disruptions in the proteome. This study was performed to identify dysregulated proteome in SCA2 and to explore its clinical-radiological correlations.
Methods:
Cerebrospinal fluid (CSF) samples from 21 genetically confirmed SCA2 were...
Lower population of dopaminergic (DA)-neurons is known to increase susceptibility to PD, and our earlier study showed a lower yield of DA-neurons in LRRK2-I1371V mutation-carrying PD patient-iPSCs. While the role of SHH in DA-neurogenesis of Floor-Plate Cells (FPCs) is known, effect of LRRK2 mutations on SHH-responsiveness of FPCs impacting DA-neur...
Acute encephalitis syndrome (AES) in children poses a significant public health challenge in India. This study aims to explore the utility of host inflammatory mediators and neurofilament (NfL) levels in distinguishing etiologies, assessing disease severity, and predicting outcomes in AES. We assessed 12 mediators in serum (n = 58) and 11 in cerebr...
Background and aims
Waldenstroms macroglobulinemia (WM) is a low-grade B cell neoplasm. Bing Neel syndrome is a rare manifestation of WM characterized by infiltrative involvement of the central nervous system.
Case report
64-year-old man, presented with 4 years history of slowly progressive diplopia and ptosis of eyes. Examination showed left ocul...
OBJECTIVE:
Homer1, a postsynaptic protein coded by the HOMER1 gene, presumably has a role in homeostatic plasticity that dampens neuronal responsiveness when the input activity is too high. HOMER1 polymorphism has been studied in major psychiatric disorders such as schizophrenia. The objective of this study is to investigate if polymorphisms of th...
The genetic loci implicated in familial Parkinson’s disease (PD) have limited generalizability to the Indian PD population. We tested mutations and the frequency of known mutations in the SNCA gene in a PD cohort from India. We selected 298 PD cases and 301 age-matched controls for targeted resequencing (before QC), along with 363 PD genomes of Ind...
Background and Aim
Friedreich’s ataxia (FRDA) is a common cause of autosomal recessive cerebellar ataxia. The phenotype is dependent on the repeat size and duration of the disease. We aimed to study the clinical, electrophysiologic, and radiologic profiles in a large Indian cohort of genetically proven FRDA patients.
Subjects and Methods
A retrosp...
Persons with neurodegenerative conditions have distinct needs as they often
struggle with no known cure, reduced life expectancy,
long‐term caregiving, and diminished quality of life. The
multifaceted suffering, spanning physical, psychologic, social,
and spiritual dimensions, is often challenging to manage.[4] In
such situations, palliative care a...
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 directive...
Background
Parkinson’s disease (PD) is characterized by the degeneration of dopaminergic neurons in the substantia nigra. SPECT imaging using technetium-99m [ 99m Tc] labeled trodat is the choice of imaging to differentiate PD from its other forms like drug-induced PD. Aims and Objectives: The main objective of our study was to prepare in-house ste...
Objective
We aimed to evaluate the effect of yoga on motor and non-motor symptoms and cortical excitability in patients with Parkinson’s disease (PD).
Methods
We prospectively evaluated 17 patients with PD at baseline, after one month of conventional care, and after one month of supervised yoga sessions. The motor and non-motor symptoms were evalu...
Background
Anti-glutamate decarboxylase 65 antibody-associated cerebellar ataxia (anti-GAD65Ab-associated CA) is the most widely studied immune-mediated CA. There are few case series evaluating the clinical, radiological, treatment profile, and outcome of anti-GAD65Ab-associated CA.
Objective
To study the clinical, radiological profile, associated...
Informative Abstract: Multiple system atrophy (MSA) is an adult-onset, sporadic, and rapidly progressive neurodegenerative disorder, that currently lacks a cure. It manifests with a combination of symptoms such as parkinsonism, dysfunction of the autonomic system, impairment of the cerebellum, involvement of the pyramidal tract, and a poor response...
Background
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by bi-allelic pathogenic variants in CYP27A1 gene that results in the deposition of cholestanol in the eyes, tendons, soft tissues and nervous system leading to cataracts, xanthomas, and various neuropsychiatric manifestations. The aim of our study is to d...
Background
Spinocerebellar ataxia type 12 (SCA-12) is an uncommon autosomal dominant cerebellar ataxia characterized by action tremors in the upper limbs, dysarthria, head tremor, and gait ataxia. We aimed to evaluate the motor cortical excitability in patients with SCA-12 using transcranial magnetic stimulation (TMS).
Methods
The study was done in...
Sleep abnormalities in Essential Tremor and Essential Tremor Plus
Background
Progressive supranuclear palsy (PSP) is the most common primary tauopathy. The definite diagnosis of PSP is established by histopathologic changes in the brain. There are no reliable blood-based biomarkers to aid the diagnosis of this fatal disease at an early stage. Also, the precise etiopathology of PSP and its variants is inadequately...
Impulse control disorders (ICDs) are a group of non-motor symptoms of Parkinson disease (PD) leading to significant psychosocial detrimental outcome. The mesocorticolimbic network plays a distinctive role in reward learning and executive decision making and has been suggested to be involved in ICDs in PD. To study morphometric changes of the mesoco...
Sexual dysfunction (SD) is a common, yet under-reported non-motor symptom of PD. Common sexual symptoms among male PD patients include erectile dysfunction, premature ejaculation, and decreased sexual desire. Few research papers have examined sexual dysfunction in PD, especially in YOPD male patients, and there is no Indian research study on sexual...
Background
Early-onset Parkinson’s disease (EOPD) refers to patients with Parkinson’s disease (PD) whose age at disease onset is less than 50 years. Literature on the non-motor symptoms (NMS) in these patients is very limited in the Indian context. We aimed to study the NMS in patients with EOPD and its impact on the quality of life (QoL).
Methods...
Aim of the study:
Expand the differential diagnosis of secondary headache to include rare intracranial tumours, detected incidentally on brain imaging. Intracranial lipomas are rare congenital malformations, and are usually pericallosal asymptomatic midline lesions. However, some cases present with headache and seizures. Symptomatic intracranial l...
Background: Glutaric aciduria type-1 (GA-1) is a rare metabolic disorder due to mutation in GCDH gene resulting in varied clinical manifestations. Here we report a case of adult-onset GA-1 with acute myelo-neuropathy and chronic renal failure. Institutional ethics committee approval was obtained and genetic analysis was done by clinical exome seque...
Background
Recent studies have advanced our understanding of the genetic drivers of Parkinson's disease (PD). Rare variants in more than 20 genes are considered causal for PD, and the latest PD genome‐wide association study (GWAS) identified 90 independent risk loci. However, there remains a gap in our understanding of PD genetics outside of the Eu...
Animal model-assisted validation is vital for biomarker studies. It provides better means for understanding disease pathogenesis and opens avenues for addressing therapeutics. Our earlier non-targeted label free proteomics-based biomarker study on CSF of Parkinson’s disease (PD) patients with cognitive impairment (PDCI), revealed the presence of el...
Purpose
Pediatric dystonia (PD) has a significant negative impact on the growth and development of the child. This study was done retrospectively to analyze functional outcomes in pediatric patients with dystonia who underwent deep brain stimulation.
Methods
In this retrospective analytical study, all the patients of age less than 18 years undergo...