Expanding the Spectrum of Autosomal Recessive Genes Responsible for Parkinson’s Disease in the Chinese Population
Objective: We aimed to identify novel candidate autosomal recessive (AR) genes combining whole-exome sequencing (WES) and long-read sequencing data (LRS) in autosomal recessive Parkinson’s disease (AR-PD) families and sporadic early-onset…Investigating Copy Number Variations in SNCA and PRKN in a Cohort of Kazakhstani Patients with Parkinson’s Disease and Healthy Controls
Objective: To investigate the frequency of copy number variations (CNVs) in SNCA and PRKN in a cohort of Parkinson’s disease (PD) patients and healthy controls…The Black and African American Connections to Parkinson’s Disease Study
Objective: BLAAC PD is a multi-center study recruiting Black and African American individuals with Parkinson’s Disease (PD) and healthy controls. The ultimate goal is to…A Rare Case of Parkinson’ s Disease Associated With Heterozygous ATP13A2 Gene Mutation: What If There Are No Atypical Features with a Later Onset?
Objective: Autosomal recessive mutations in ATP13A2 gene is a rare cause of levodopa-responsive parkinsonism with atypical features of supranuclear gaze palsy, spasticity, dystonia, dementia, myoclonus,…Cardiovascular Risk Profile in Patients with Primary Familial Brain Calcification
Objective: To explore the cardiovascular risk profile of patients with Primary Familial Brain Calcification (PFBC) and Fahr’s syndrome. Background: PFBC, also known as Fahr’s disease,…Phenotypic variability of mitochondrial tRNA Ser(UCN) gene [MTTS1] mutation: First report from India
Objective: To describe a rare cause of mitochondrial ataxia in an Indian Agarwal family, associated with cytochrome c oxidase deficiency due to point mutation in…Association of Liver Fibrosis with Motor Deficits in Parkinson’s Disease
Objective: To determine the impact of liver fibrosis on motor symptoms in Parkinson’s disease Background: Parkinson’s disease motor symptoms can vary with systemic illnesses [1,2].…Levels of change in interleukin-6 levels according to clinical forms of Parkinson’s disease in patients with and without Covid-19
Objective: Comparison of serum IL-6 levels in clinical forms Parkinson's disease (PD) patients with and without Сovid-19. Background: Changes in the treatment after infection with…Parkinson’s Disease tremor can show entrainment and distractibility with electrophysiological assessment using tapping test.
Objective: To examine whether features described in tapping test are specific to functional tremor by evaluating rest and postural tremor in PDpatients using the same protocol for assessment of…Predictive Accuracy of Baseline DaT-SPECT for Freezing of Gait at 5, 7, and 10-year Follow up in The PPMI Cohort
Objective: To see if segmentation models of baseline DaT-SPECT striatal binding ratios (SBR) will predict freezing of gait (FoG) in Parkinson’s Disease over a 5,…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.