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.…Diabetes Mellitus in Huntington’s disease. The Argentinean perspective
Objective: to compare the prevalence of diabetes mellitus (DM) in a self-reported series of local Huntington disease (HD) participants in the ENROLL-HD registry with the…Risk and timing of manifest Huntington’s disease in patients with reduced penetrance alleles
Objective: To estimate risk of Huntington’s disease (HD) over time in patients with reduced penetrance (RP) alleles (36-39 CAG repeats) overall, by individual repeat length,…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…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…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.