MYORG is associated with recessive primary familial brain calcification
Objective: To investigate the genetic basis of the recessive form of primary familial brain calcification (PFBG) and study pathways linking a novel gene with known…Plasma membrane Ca2+ Atpase 1 as a candidate to mediate the degeneration of dopaminergic neurons by inflammation in Parkinson’s disease
Objective: To identify genes involved in the degeneration of the dopaminergic neurons (DN) of the substantia nigra (SN) by inflammation. Background: Parkinson’s disease (PD) is…Clinical, genetic and radiological characterization of patients with movement disorders and basal ganglia calcification
Objective: The aim of this study is to present a case series of patients affected by movement disorders and Fahr’s disease or Primary Familial Brain…Dopaminergic imaging in patients with basal ganglia calcification presenting with parkinsonism
Objective: To evaluate the integrity of the nigro-striatal system with single photon emission computed tomography imaging with dopamine transporter (DaTscan) in patients with basal ganglia…Therapeutic exposures of CX-8998, a potent, selective and state dependent Cav3 channel antagonist in development for Essential Tremor and Parkinson’s disease Tremor in Cav3 driven neurological models
Objective: In this study, we utilized preclinical data to establish predicted human therapeutic exposures of the potent, selective and state-dependent Cav3 channel antagonist, CX-8998, currently…A Phase 2 Efficacy Study of CX-8998, a Potent and Selective T-Type Calcium (Cav3) Modulator in Parkinson’s disease Tremor (PDT) Patients: Design and Dose-Selection Rationale
Objective: The objective of this study is to access the efficacy of CX-8998 using the MDS-UPDRS Tremor Score (MDS-UPDRS-TS) and a digital biomarker platform, while…Proof-of-Principle Quantitative EEG Study of CX-8998, an Oral, Potent and Selective T-Type Calcium antagonist in development for symptomatic treatment of Essential Tremor and Parkinson’s disease Tremor
Objective: To study the pharmacodynamics (PD) of CX-8998, using pharmaco-electroencephalography (phEEG) and define plasma concentrations of CX-8998 which are pharmacologically active on objective CNS parameters.…Analysis of secondary causes in Fahr’s syndrome and whole exome sequencing in Fahr disease from Northeast China and South Korean
Objective: In this study, patients with Fahr syndrome were analyzed for etiology, and genetic testing was performed for patients with Fahr disease from Northeast China…Reduction of neuroinflammation by selective inhibition of the N-type calcium channel is beneficial in various animal models of neurodegeneration, here in the SOD1G93A transgenic mouse model of ALS
Objective: Neuroinflammation is a pathological hallmark of several neurodegenerative diseases. We speculated that reduction of calcium ion influx specifically in neurons should reduce inflammatory cellular…Pharmacological investigation of biochemical and behavioral effects resembling Huntington’s disease utilizing selective calcium and calmodulin dependent phosphodiesterase inhibitor
Objective: To investigate the effects of selective phosphodiestrase (PDE) inhibitors in Nimodipine induced neuro degeneration (animal models of Huntington’s disease) in rats. Background: Nimodipine is…