Characterization of a mouse model of PDE10A-related autosomal-dominant movement disorder.
Objective: To characterize a newly generated mouse model of the movement disorder caused by PDE10A pathogenic mutation F300L. Background: Phosphodiesterase 10A (PDE10A) is a striatal…The roles of Huntingtin Associated Protein 40 in Huntingtin functions and Huntington’s disease pathogenesis
Objective: Huntington’s disease (HD) is caused by an abnormal expansion of a glutamine tract (polyQ) in huntingtin (HTT), a large scaffold protein with numerous reported…A Case of Disabling Orofacial Dyskinesias Caused by Lupus Anticoagulant
Objective: We describe a 93-year-old man with subacute, progressive onset of disabling orofacial dyskinesias (OD), found to have positive lupus anticoagulant (LA) and anti-beta2-glycoprotein IgA…Discharge rate dependency of bursting of pallidal neurons underlying choreic movements
Objective: To investigate the physiological mechanisms of neurons in the basal ganglia motor circuit underlying choreic movements. Background: Synchronized burst discharges and the low discharge…Cytokines and Brain Specific Antibodies in Experimental Cellular and Molecular Treatment of Huntington’s Diseases
Objective: Huntington’s Disease (HD) is a severe neurodegenerative disorder main pathogenic factor is CAG repeats in a suffered patients genome. Experimental therapy on the model…Longitudinal dynamics of mutant huntingtin and neurofilament light in Huntington’s disease: the prospective HD-CSF study
Objective: To present the mutant huntingtin (mHTT) and neurofilament light (NfL) findings from the two-year prospective longitudinal HD-CSF study, in which an 80-participant cohort of…Evaluation of Cortical Excitability in Huntington’s Disease and Parkinson’s Disease
Objective: To evaluate the cortical excitability difference in Huntington's disease (HD) and Parkinson's disease (PD) using paired-pulse transcranial magnetic stimulation (TMS). Background: TMS is useful…What connectivity tells us about neurodegeneration in Huntington disease? A fMRI study
Objective: Our study investigated the impact of Huntington disease (HD) on brain connectivity, through resting-state (RS) fMRI, among the most critical regions associated with physiopathology.…Neuromelanin MRI detects monoaminergic cell loss in Huntington Disease Expansion Gene Carriers.
Objective: To measure, with NM-MRI, the integrity of neuromelanin-containing monoaminergic cells in the SN and LC in Huntington Disease Gene Expansion Carriers (HDGECs) and compare…Quantification of regional iron content with Susceptibility Weighted Imaging in Huntington Disease Expansion Gene Carriers
Objective: To assess brain iron content measured with SWI-MRI in HD gene expansion carriers (HDGECs). Background: Huntington’s Disease (HD) results in extensive neuronal cell loss,…