Non-motor symptoms in patients with Spinocerebellar ataxia type 12.

Introduction: Spinocerebellar ataxia type 12 (SCA12) is a rare autosomal dominant neurodegenerative disorder caused by abnormal CAG repeat expansion in the gene. This disease is classically characterized by action tremor, dysarthria, ataxia, and hyperreflexia. There are limited reports regarding the non-motor symptoms in patients with SCA 12.

Movement disorders in Megalencephalic Leukoencephalopathy with subcortical cysts - A case series.

Background: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) has been described in the literature mostly as early-onset leukodystrophy with cerebellar ataxia being the main clinical phenotype. However, other associated movement disorders have also been reported discretely.

Cases: Here, we present seven cases of MLC.

Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India.

Background: Variants in the TUBB4A gene are associated with dystonia (DYT-TUBB4A), Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC) and spastic paraplegia. Phenotypes intermediate to these three broad phenotypes are also observed. These are rare disorders, and data from diverse populations remains limited.

Effects of non-invasive vagus nerve stimulation on clinical symptoms and molecular biomarkers in Parkinson's disease.

Non-invasive vagus nerve stimulation (nVNS) is an established neurostimulation therapy used in the treatment of epilepsy, migraine and cluster headache. In this randomized, double-blind, sham-controlled trial we explored the role of nVNS in the treatment of gait and other motor symptoms in Parkinson's disease (PD) patients. In a subgroup of patients, we measured selected neurotrophins, inflammatory markers and markers of oxidative stress in serum.

Characterizing gait and exploring neuro-morphometry in patients with PSP-Richardson's syndrome and vascular parkinsonism.

Gait differentiation in progressive supranuclear palsy (PSP) and vascular parkinsonism (VaP) is sometimes difficult to detect with the naked eye. Here, we compared specific gait parameters, neuro-morphometric indices, and their associations between patients with PSP Richardson's syndrome (PSP-RS) and VaP. A total of 18 PSP-RS and 13 VaP patients were recruited.

Dietary and Environmental Risk Factors in Parkinson's and Alzheimer's Disease: A Semi-Quantitative Pilot Study.

Objective: Environmental influence and dietary variations are well-known risk factors for various diseases including neurodegenerative disorders. Preliminary evidence suggests that diet in early-life and living environment might influence the incidence of Parkinson's disease (PD) in later phase of life. There have been limited epidemiologic studies on this aspect especially in India.

Is peripheral alpha synuclein a marker for gait velocity in Parkinson's disease?

Background: The extent of gait abnormality is non-uniform across motor phenotypes of Parkinson's disease (PD). The biological basis of this heterogeneity remains intriguing. Moreover, the relationship of gait impairment with various neurodegenerative protein markers in PD is not well established.

Semantic Fluency Predicts Gait Velocity in PSP.

Context: Progressive supranuclear palsy (PSP) is a large-scale network disease resulting in variable signs and symptoms including gait impairment and higher order cognitive dysfunction. Despite few studies showing the association of falls and cognitive dysfunction, the existing literature is yet to establish the exact relationship of discrete characteristics of gait with cognitive function in PSP.

Aims: In this cross-sectional study, we aimed to characterize and explore the relationship of these two apparently distinct physiological phenomena in patients with PSP and across its different variants.

A longitudinal quantitative analysis of gait in patients with SCA-12.

Introduction: Spinocerebellar ataxia type 12 (SCA 12) is characterized by late onset tremor, ataxia and pyramidal signs. Parkinsonism and cognitive decline may appear with time. It is considered as slowly progressive but temporal evolution of symptoms has not been reported.

Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.

Background: Complex parkinsonism is the commonest phenotype in late-onset PLA2G6-associated neurodegeneration.

Objectives: The aim of this study was to deeply characterize phenogenotypically PLA2G6-related parkinsonism in the largest cohort ever reported.

Methods: We report 14 new cases of PLA2G6-related parkinsonism and perform a systematic literature review.

Soluble LAG-3 and Toll-interacting protein: Novel upstream neuro-inflammatory markers in Parkinson's disease.

Introduction: There is some evidence regarding the role of LAG-3, TLR mediated neuroinflammation in PD.

Methods: sLAG-3, TOLLIP, NLRP3 levels were measured in PD and healthy controls.

Results: These markers were significantly higher in PD and were associated with progression.

Clinical Significance of Applause Sign in Patients with Progressive Supranuclear Palsy.

Applause sign (AS) is a clinical phenomenon observed in several neurological disorders including progressive supranuclear palsy (PSP). We investigated the factors associated with AS in patients with PSP. PSP patients with AS showed greater motor impairment compared to those with negative AS.

Comparing Stop Signal Reaction Times in Alzheimer's and Parkinson's Disease.

Background: To investigate the relative contributions of cerebral cortex and basal ganglia to movement stopping, we tested the optimum combination Stop Signal Reaction Time (ocSSRT) and median visual reaction time (RT) in patients with Alzheimer's disease (AD) and Parkinson's disease (PD) and compared values with data from healthy controls.

Methods: Thirty-five PD patients, 22 AD patients, and 29 healthy controls were recruited to this study. RT and ocSSRT were measured using a hand-held battery-operated electronic box through a stop signal paradigm.

Non-invasive vagus nerve stimulation improves clinical and molecular biomarkers of Parkinson's disease in patients with freezing of gait.

Non-invasive vagus nerve stimulation (nVNS) is an established neurostimulation therapy used in the treatment of epilepsy, migraine and cluster headache. In this randomized, double-blind, sham-controlled crossover trial we explored the role of nVNS in the treatment of gait and other motor symptoms in Parkinson's disease (PD) patients. In a subgroup of patients, we measured selected neurotrophin levels and markers of inflammation and oxidative stress in serum, before and after the experimental intervention.

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.

Inflammasome and α-synuclein in Parkinson's disease: A cross-sectional study.

Background: Alpha-synuclein and inflammatory pathology are evident in Parkinson's disease (PD) but, their link to disease pathogenesis needs further elucidation.

Objectives: To explore α-synuclein-mediated inflammation in the serum of PD patients and its link with disease severity.

Methods: Serum levels of IL-1β, NLRP3, total and phosphorylated α-synuclein were compared.