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…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…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…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.