Longitudinal imaging of regional volumes, presynaptic terminals and glucose metabolism in brains of people with early Huntington’s disease
Objective: To compare the sensitivity of 11C‑UCB‑J PET, 18F-FDG PET and volumetric MRI for detection of longitudinal brain changes in early Huntington’s Disease (HD). Background:…Levodopa-induced dyskinesia and Huntington’s chorea: link to current motor control theories
Objective: Determine if there is a motor control hypothesis that could explain movement kinematics of Huntington’s disease (HD) chorea and Parkinson’s disease (PD) levodopa-induced dyskinesia…Pallidal activity as a driving force of choreic movements
Objective: To investigate the mechanisms of neuronal discharges of the globus pallidus which drive choreic movements. Background: Synchronized bursts and the low discharge rates of…Effects of cerebellar cTBS on motor symptoms in Huntington’s disease: a feasibility and pilot study
Objective: To evaluate the feasibility and preliminary clinical effects of a single session of cerebellar cTBS in patients with Huntington's disease (HD) with mild-moderate motor…Localisation of distinct brain networks in premanifest and manifest Huntington’s disease
Objective: To map the brain networks underlying Huntington’s Disease (HD), testing whether there are distinct networks involved in premanifest and manifest disease stages. Background: HD…Autoimmune Chorea. Therapy with Monoclonal Antibodies: Experimental and Clinical Approach
Objective: Autoimmune chorea (AICh) resulting from the appearance of paraneoplastic antibodies in response to development of malignant tumors of various localization. Sydenham's rheumatic chorea, described…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…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…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,…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…
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