Exploring youth with Tourette syndrome whose tics first manifested after age 12
Objective: To determine whether forms of Tourette syndrome (TS) first manifesting in adolescence (age 12 or older) are different from forms of TS occurring in…Dual Pathways of Holmes Tremor Suggested from the Experience of Deep Brain Stimulation
Objective: To explore the pathways related with Holmes tremor, we evaluated the tremor suppression effect of deep brain stimulation (DBS), with the diffusion tensor imaging…Sleep profiles in patients with Essential Tremor and Essential Tremor Plus: Polysomnography Insights
Objective: This study aims to assess sleep disturbances in Essential tremor (ET) and its variant, ET plus, compared to healthy controls using Polysomnography (PSG), and…Application of Neurophysiology in the Clinical Evaluation of Pediatric and Adolescent Patients with Tremor
Objective: We explored the utility of noninvasive electrophysiological tremor studies in patients referred for evaluation by pediatric movement specialists following their clinical assessment . The…Complex Movement Disorders in Late Onset TPP1 Gene Mutation (Atypical Neuronal Ceroid Lipofuscinosis Type 2)
Objective: To describe an atypical late onset phenotypical presentation of a homozygous TPP1 mutation with complex movement disorders. Background: TPP1 mutations, lead to deficiency of…GBA1 deficiency differentially affects endolysosomal trafficking in neurons and astrocytes
Objective: To characterize how GBA1 deficiency alters endolysosomal trafficking in astrocytes versus neurons. Background: Mutations in the gene glucosidase, beta acid 1 (GBA1) not only increase risk…Disease Progression in Patients with PLA2G6-related Parkinsonism: A Longitudinal Study
Objective: To investigate disease progression of PLA2G6-related parkinsonism in a longitudinal study. Background: There is a paucity of follow-up studies on disease progression in PLA2G6-related…Genetic Modifiers of Age at Onset for Parkinson’s Disease in Chinese Population
Objective: This study aimed to identify novel genetic modifiers of age at onset (AAO) for Parkinson’s disease (PD) including common variants and rare variants using…Common Genetic Variation Associated with Parkinson’s Disease Biological Measures
Objective: To identify common genetic variants associated with biological measures that have been implicated in Parkinson’s disease and related synucleinopathies. Background: Alpha synucleinopathies, mainly including…Determining and Leveraging Local Ancestry to Assess Individual-Level Risk: from the Global Parkinson’s Genetics Program
Objective: We develop a scalable pipeline leveraging existing tools to determine local ancestry for all individuals in the Global Parkinson’s Genetics Program (GP2), aiming to…