mutation - Novel phenotypic presentation mimicking idiopathic Parkinson's disease.

• mutations can present as asymmetric parkinsonism mimicking idiopathic Parkinson's disease,• mutation must be considered in Early onset Parkinson's disease even with a negative family history.•Parkinsonism with mutations has shown good to moderate response to dopamine.

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.

Adult-Onset Neuronal Ceroid Lipofuscinosis: Variant Presenting as Focal Dystonia.

Background: Neuronal ceroid lipofuscinosis (NCL) is a rare hereditary lysosomal storage disorder causing neuronal loss and progressive neurodegeneration. variants cause varied phenotypic presentations.

Case Report: A 49-year-old male presented with late adult-onset progressive focal right lower limb dystonia.

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.

Dystonia Deafness Syndrome: A Rare Deep Brain Stimulation Responsive Dystonia.

Dystonia deafness syndrome (DDS) is a rare syndrome characterized by childhood onset sensorineural deafness followed by adult-onset dystonia. We here report the first case of DDS from India caused by gene mutation presented with deafness, generalized dystonia and scoliosis who showed improvement after Deep brain stimulation.

Chaudhuri's Dashboard of Vitals in Parkinson's syndrome: an unmet need underpinned by real life clinical tests.

We have recently published the notion of the "vitals" of Parkinson's, a conglomeration of signs and symptoms, largely nonmotor, that must not be missed and yet often not considered in neurological consultations, with considerable societal and personal detrimental consequences. This "dashboard," termed the Chaudhuri's vitals of Parkinson's, are summarized as 5 key vital symptoms or signs and comprise of (a) motor, (b) nonmotor, (c) visual, gut, and oral health, (d) bone health and falls, and finally (e) comorbidities, comedication, and dopamine agonist side effects, such as impulse control disorders. Additionally, not addressing the vitals also may reflect inadequate management strategies, leading to worsening quality of life and diminished wellness, a new concept for people with Parkinson's.

Effect of Medication and Deep Brain Stimulation on Gait in Parkinson's Disease and its Quantitative Analysis Using Mobishoe - A Comparative Study.

Background: Movement abnormalities pertaining to balance, posture, and gait are observed in Parkinson's disease patients. Gait characteristics vary widely and their analysis has been performed traditionally in gait labs. Freezing and festination usually occur at an advanced stage of the disease and are associated with reduced quality of life.

Association of Catechol-O-Methyltransferase Gene Polymorphisms and Haplotypes in the Levodopa-Induced Adverse Events in Subjects with Parkinson's Disease.

The presence of dyskinesia is the most common side effect of chronic administration of levodopa in Parkinson's disease (PD) subjects. Genetic polymorphisms in levodopa metabolizing gene, catechol-O-methyl transferase (COMT), is shown to influence the inter-individual variability in drug response and adverse events. In the present study, the association of COMT rs6269, rs4633, rs4818, and rs4680 polymorphisms and haplotypes on pharmacokinetics and adverse events with levodopa was investigated in 150 PD patients.

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.

Neuroimaging Pearls from the MDS Congress Video Challenge. Part 1: Genetic Disorders.

We selected several "imaging pearls" presented during the Movement Disorder Society (MDS) Video Challenge for this review. While the event, as implicated by its name, was video-centered, we would like to emphasize the important role of imaging in making the correct diagnosis. We divided this anthology into two parts: genetic and acquired disorders.

Dementia with Lewy bodies research consortia: A global perspective from the ISTAART Lewy Body Dementias Professional Interest Area working group.

Dementia with Lewy bodies (DLB) research has seen a significant growth in international collaboration over the last three decades. However, researchers face a challenge in identifying large and diverse samples capable of powering longitudinal studies and clinical trials. The DLB research community has begun to focus efforts on supporting the development and harmonization of consortia, while also continuing to forge networks within which data and findings can be shared.

18F-FDG PET/CT Findings in a Rare Case of Paraneoplastic Vestibulocerebellar Syndrome Associated With Isolated Antiamphiphysin Antibodies.

Paraneoplastic cerebellar degeneration (PCD) is an immune-mediated neurological disease characterized by adaptive immune response against onconeural antigens physiologically expressed in the cerebellum. It is characterized by presence of highly specific onconeural autoantibodies such as anti-Yo, anti-Hu, anti-Ri, and anti-Ma2 in the serum and cerebrospinal fluid as diagnostic biomarkers. Antiamphiphysin autoantibody-related paraneoplastic encephalitis is a less commonly seen autoimmune neurological disorder usually presenting as stiff person syndrome.

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.

Functional Outcome of Bilateral Subthalamic Nucleus-Deep Brain Stimulation in Advanced Parkinson's Disease Patients: A Prospective Study.

Background: Deep brain stimulation (DBS) is an accepted modality of treatment in patients with Parkinson's disease (PD). Although DBS was approved in advanced PD, it is being done in early PD as well. It was mainly developed to help the patients of PD to overcome the adverse motor effects associated with treatment and treatment failure.

Neuron specific enolase as a marker of seizure related neuronal injury.

Background: and purpose: Neuron specific enolase (NSE) is an established biomarker of neuronal damage. It is not clear how much seizures contribute to the neuronal damage, morbidity or mortality in critically ill neurology patients. The aim of this study is to determine the impact of seizures on neuronal injury in critically ill neurology patients by using neuron specific enolase as a biomarker.

Validation of the 2015 diagnostic criteria for neuromyelitis optica spectrum disorders in a cohort of South Indian patients.

Background: Neuromyelitis Optica spectrum disorders (NMOSD) are one of the most common CNS demyelinating disorders as they will present with disabling recurrent demyelinating attacks. Hence, it is of paramount importance to diagnose early, and early diagnoses and intervention will prevent further relapses associated with NMOSD. New international consensus criteria have been proposed and studies validating its application towards diagnoses of NMOSD in south Asian population are meagre.

Predictors of Intracerebral Hemorrhage in Acute Stroke Patients Receiving Intravenous Recombinant Tissue Plasminogen Activator.

Background: Symptomatic Intracerebral hemorrhage (sICH) is a serious complication of recombinant tissue-plasminogen activator (rt-PA) therapy for acute ischemic stroke (AIS).

Objective: To estimate the prevalence and predictors of sICH in patients after receiving IV rt-PA for AIS.

Material And Methods: Consecutive patients of AIS thrombolysed between January 2010 and June 2016 in a University hospital in Hyderabad (India) were studied prospectively for sICH and it's various variables compared with the control group without sICH to determine any sigificantant difference.