Nitish L Kamble

National Institute of Mental Health and Neuro Sciences | NIMHANS · Department of Neurology

Neuromyelitis optica spectrum disorder (NMOSD) is a relapsing central nervous system disease most commonly associated with aquaporin-4 antibodies (AQP4-Ab) and Myelin oligodendrocyte glycoprotein (MOG) antibodies. These demyelinating disorders influence cortical excitability, which has been studied using advanced imaging techniques and transcranial...

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...

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...

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...

Background Exercise has been demonstrated to result in improvements in physical function, cognition, and quality of life in People with Parkinson's (PwP) but its adoption is variable. Objectives To investigate exercise preferences, levels, influencing factors among a diverse Parkinson's disease (PD) population, to understand exercise adoption patt...

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...

Background: Antibody-mediated autoimmune encephalitis (AE) encompasses inflammatory central nervous system disorders linked etiologically with neuronal autoantibodies. Movement disorders (MDs) are common and diverse in AE, and their early identification can expedite effective management.Current literature on MDs in AE is limited to a few case repor...

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 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...

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...

A 71-year-old gentleman presented with progressive difficulty walking of 2 years duration. The gait abnormality was insidious in onset and gradually progressive in nature. Initially, his walking became slow and developed short steps. Subsequently, he noticed an imbalance while walking, with a tendency to fall and difficulty turning. For 6 months he...

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...

Background Functional movement disorders (FMD) are a diagnostic and therapeutic challenge, both to the neurologist and psychiatrists. The phenomenology is varied and can present as tremors, dystonia, jerks/myoclonus, gait disorder, other abnormal movements or a combination. There has been an increase in the use of electrophysiological studies that...

Background Dementia with Lewy body is a neurodegenerative disorder and is the second most common cause of dementia after Alzheimer’s disease. We aimed to study the demographic, clinical, neuropsychological, and imaging characteristics of these patients. Methods The current study is a retrospective chart review of 37 patients who met the diagnostic...

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...

Introduction Movement disorders are the commonest clinical presentation in patients with neurological Wilson’s disease (NWD). There are very few studies evaluating the spectrum, severity and their correlation with magnetic resonance imaging (MRI) changes of movement disorders in NWD. Objective To study the spectrum, topographic distribution, radio...

Characterization Of Sleep Abnormalities In Essential Tremor And Essential Tremor Plus

Background Vascular Parkinsonism (VP) is characterized by rigidity and bradykinesia predominantly affecting the lower limbs. Optical Coherence tomography (OCT) facilitates the visualization of retina and choroid and may help in delineating differential involvement of retina and choroid in patients with VP. In this study, we report the pattern of ch...

Introduction: Vascular parkinsonism (VaP), type of lower body parkinsonism, occurs in relation to ischemic cerebrovascular disease. It can be associated with cognitive impairment. We aimed to study the cortical excitability changes in these patients using transcranial magnetic stimulation (TMS). Methods: We included 20 patients with VaP and 22 heal...

Huntington's disease (HD) is caused by an increase in the number of CAG triplet repeats in exon 1 of the Huntingtin ( HTT ) gene. Expansions that contain more than 39 repeats predispose to disease. Some specific genetic elements (SNPs), and the haplotypes they create (haplogroups A, B, and C), located at the HTT locus seem to impact CAG repeat inst...

Disability certification is mandatory for people with Parkinson’s disease to avail any schemes and benefits in India. The process of certification of the extent of disability in a complex disorder like Parkinson’s needs to be made less cumbersome and streamlined to ensure that people for whom the benefits are meant are able to avail them.

Background: L-2-Hydroxyglutaric aciduria (L2HGA) is a rare progressive neurometabolic disorder with variable clinical presentation including cerebellar ataxia, psychomotor retardation, seizures, macrocephaly and speech problems. In this study, we aimed at identifying the genetic cause in two unrelated families suspected with L2HGA. Methods: Exom...

Eye Tracking is an important research technique used to analyze the movement of the eye and to recognize a pattern. Eye Tracking is a frequently used tool to understand the prognosis of a disease. iAOI is an Artificial Neural Network model that predicts the Area or Region of Interest viewed by a participant depending on the eye movement data. An ey...

Background: Mutations in the KMT2B gene have been identified in patients previously diagnosed with idiopathic dystonia. Literature on KMT2B-related dystonia is sparse in the Indian and Asian populations. Methods: We report seven patients with KMT2B-related dystonia studied prospectively from May 2021 to September 2022. Patients underwent deep cl...

Owing to the presence of multiple enzymatic domains, LRRK2 has been associated with a diverse set of cellular functions and signaling pathways. It also has several pathological mutant-variants, and their incidences show ethnicity biases and drug-response differences with expression in dopaminergic-neurons and astrocytes. Here, we aimed to assess th...

Psychotic symptoms occur in a majority of schizophrenia patients and in ~50% of all Parkinson’s disease (PD) patients. Altered grey matter (GM) structure within several brain areas and networks may contribute to their pathogenesis. Little is known, however, about transdiagnostic similarities when psychotic symptoms occur in different disorders, suc...

Owing to the presence of multiple enzymatic domains, LRRK2 has been associated with a diverse set of cellular functions and signaling pathways. It also has several pathological mutant-variants, and their incidences show ethnicity biases and drug-response differences with expression in dopaminergic-neurons and astrocytes. Here, we aimed to assess th...

PSP and CBD are usually multi system sporadic disorders characterized by tau inclusions in neurons and glia. The clinical and neuroimaging features are different .However in some cases overlapping of features are noted. Here we present a case of a 65 years old female patient, presenting a 3 years history of insidious onset of asymmetric right upper...