A modified model for prediction of Huntington disease age of onset based on length of CAG repeat expansion
Objective: We aimed to search for a possibility to modify Langbehn et al. model (LanM) for prediction of Huntington disease (HD) age of onset based on length of CAG…Myths and Misconceptions Regarding Huntington’s Disease in Peru
Objective: To explore the understanding and conceptualization of Huntington’s disease (HD) genetics and pathology among HD patients and family caregivers in Peru. Background: HD is…Cerebrospinal fluid biomarkers in Huntington’s disease – a longitudinal study
Objective: To validate the role of NFL as a marker of disease progression and to discover new biomarkers in HD. Background: Neurofilament light chain (NFL)…Large CAG expansions in Huntington disease children: the RAREST-JHD initiative
Objective: RAREST-JHD (Juvenile Huntington Disease) is an initiative to study young HD subjects’ clinics, genetics and imaging to identify markers to transfer into clinics and…Update on the MDS-Sponsored Systematic Review On Clinical Rating Scales for Huntington’s Disease: motor, cognitive, functional ability and quality of life domains
Objective: To provide an update on the MDS-sponsored Systematic Review of Rating Scales for Huntington’s Disease (HD). Background: The use and validity of clinical rating…Longitudinal Study of Cortico-Striatal Functional Connectivity in Huntington’s Disease Measured with High-Field Functional MRI.
Objective: To assessed functional connectivity by using functional Magnetic Resonance Imaging (fMRI) at 7 Tesla as baseline and one year thereafter. Background: Our previous study…Gait Analysis in Patients with Huntington’s Disease
Objective: The aim of this study is to investigate the temporospatial gait parameters in patients with HD in comparison with healthy control. Background: Gait disturbance…Hung up knee jerk reflex in Huntington’s disease: A clinical and neurophysiological study
Objective: Evaluate the presence of Hung-up Knee jerk reflex (HUKJR) in premanifest and symptomatic Huntington’s Disease (HD) patients and its neurophysiological correlate. Background: The HUKJR is a…Dopamine transporter scan finding in patients with chorea.
Objective: To evaluate dopamine transporter scan findings in patients with chorea. Background: Chorea is nonrepetitive irregular involuntary movement with distal predominance. They are caused by…Imaging of phosphodiesterase 10 A (PDE10A) enzyme levels in the living human brain of Huntington’s disease gene expansion carriers and healthy controls with positron emission tomography.
Objective: The objective of this study was to examine the loss of Phosphodiesterase 10A enzyme (PDE10A) across a broad spectrum of Huntington’s disease (HD) stages.…