Validation of biomarkers in Huntington’s disease to support the development of disease-modifying therapies: a systematic review and critical appraisal scheme
Objective: To review studies for disease progression biomarkers published in HD and evaluate their methodological quality in a standardized manner. Background: Huntington disease (HD) is a fatal autosomal dominant neurodegenerative condition that starts to manifest clinically around the 4th decade of life. There are promising novel genetic-based therapies under development intended to modify the disease trajectory. Valid…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…Reversible hemichorea due to contralateral anterior cerebral artery territory hypoperfusion
Objective: We report hemichorea due to hypoperfusion of the contralateral anterior cerebral artery (ACA) territory (including caudate nucleus and its connections) that reversed with revascularization.…Neural oscillations modulation during working memory in premanifest and early Huntington’s disease
Objective: To test whether high-density electroencephalography (hdEEG) coupled to source localization allows for the identification of neuronal oscillations in specific frequency bands in patients with…Evaluation of CSF Assay usability for Huntington’s Disease (HD) Clinical Studies (mHTT, tHTT and NFL in HDClarity)
Objective: Evaluate clinical utility of candidate biomarker assays for HD studies. Background: Multiple clinical trials targeting the lowering of huntingtin (HTT) are underway or planned.…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.