Grace S Lin Liang

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X-linked Charcot-Marie-Tooth disease is one of a set of diseases caused by mutations in gap junction proteins called connexins. We identified a connexin32 missense mutation (F235C) in a girl with unusually severe neuropathy. The localization and trafficking of the mutant protein in cell culture was normal, but electrophysiological studies showed that the(More)
OBJECT Medically refractory dystonia has recently been treated using deep brain stimulation (DBS) targeting the globus pallidus internus (GPI). Outcomes have varied depending on the features of the dystonia. There has been limited literature regarding outcomes for refractory dystonia following DBS of the subthalamic nucleus (STN). METHODS Four patients(More)
OBJECTIVE To assess the predictive value of baseline measures of impairment, disability, and quality of life for the timing of initiation of symptomatic treatment in early Parkinson disease (PD). DESIGN Inception cohort analysis. SETTING Ambulatory population from multiple sites in the United States and Canada. PARTICIPANTS Four hundred thirteen(More)
The erythrocyte type one complement receptor (E-CR1) mediates erythrocyte binding of complement-opsonized immune complexes (IC), and helps protect against random deposition of circulating IC. Two linked CR1 polymorphisms occur in binding domains, at I643T and Q981H. In Caucasians, the variant alleles (643T, 981H) are associated with low constitutive E-CR1(More)
IMPORTANCE There are no treatments available to slow or prevent the progression of Parkinson disease, despite its global prevalence and significant health care burden. The National Institute of Neurological Disorders and Stroke Exploratory Trials in Parkinson Disease program was established to promote discovery of potential therapies. OBJECTIVE To(More)
BACKGROUND In patients with advanced Parkinson's disease (PD), deep brain stimulation (DBS) of the subthalamic nucleus (STN) has been shown to improve motor function and decrease medication requirements in the short term. However, the long-term benefits of DBS are not yet established. OBJECTIVE It was the aim of this study to evaluate long-term outcomes(More)
We describe 2 patients with advanced Parkinson's disease (PD) treated with bilateral deep brain stimulation of the subthalamic nucleus in whom unilateral stimulator battery depletion resulted in the rapid appearance of disabling PD symptoms (severe rigidity, bradykinesia and gait difficulty). Both patients did not respond to high doses of dopaminergic(More)
IMPORTANCE Optimizing assessments of rate of progression in Parkinson disease (PD) is important in designing clinical trials, especially of potential disease-modifying agents. OBJECTIVE To examine the value of measures of impairment, disability, and quality of life in assessing progression in early PD. DESIGN, SETTING, AND PARTICIPANTS Inception cohort(More)
OBJECTIVES The purpose of this study was to evaluate whether radiation exposure from cardiac computed tomographic angiography (CTA) is associated with deoxyribonucleic acid (DNA) damage and whether damage leads to programmed cell death and activation of genes involved in apoptosis and DNA repair. BACKGROUND Exposure to radiation from medical imaging has(More)
We evaluated the long-term effects of subthalamic nucleus (STN) stimulation on health-related quality of life (HRQL) in patients with advanced Parkinson's disease (PD). STN stimulation improves motor function and decreases medication requirements in patients with advanced PD. The impact of STN stimulation on HRQL is less well established, especially beyond(More)