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View article: Robust Extrapolated Semi‐Solid Magnetization Transfer Reference Fitting for Quantitative Amide Proton Transfer Imaging at <scp>3 T</scp> : Application to Patients With Mild Cognitive Impairment and Mild Dementia
Robust Extrapolated Semi‐Solid Magnetization Transfer Reference Fitting for Quantitative Amide Proton Transfer Imaging at <span>3 T</span> : Application to Patients With Mild Cognitive Impairment and Mild Dementia Open
Purpose To refine the utility of the extrapolated semi‐solid magnetization transfer reference (EMR) method for amide proton transfer (APT) quantification. Methods Twelve patients (7 mild cognitive impairment and 5 mild dementia; 66.3 ± 8.7…
Reliability and validity of the Huntington's Disease Everyday Functioning (Hi-DEF): A patient-reported measure of cognitive capacity on daily functioning in Huntington's disease Open
Background The Huntington's Disease (HD) Everyday Functioning (Hi-DEF) is a novel patient-reported outcome (PRO) scale developed to assess the impact of cognitive impairment on daily functioning in early HD patients. Objective To examine t…
Pearls & Oy-sters: Epilepsy Is a Key Feature of Pediatric-Onset Huntington Disease Open
Pediatric-onset Huntington disease (PoHD) presents differently from adult-onset disease. Children typically exhibit regression in school performance, psychiatric features such as inattention, and oral motor dysfunction. Unlike adult-onset …
View article: DRUM-PD/HD: The Impact of a Pilot Group Drum-Based Music Therapy Intervention on Quality of Life and Motor Symptoms in Parkinson Disease and Huntington Disease
DRUM-PD/HD: The Impact of a Pilot Group Drum-Based Music Therapy Intervention on Quality of Life and Motor Symptoms in Parkinson Disease and Huntington Disease Open
Rhythm-based therapeutic interventions have widely been used in patients with neurologic disorders to address motor and quality of life outcomes. Although group drumming has been explored in several pilot studies of patients with Parkinson…
Factors impacting quality of life in multiple system atrophy Open
Background Multiple system atrophy (MSA) is an atypical parkinsonian disorder marked by autonomic dysfunction, parkinsonism, cerebellar dysfunction, and poor response to dopaminergic medications such as levodopa. Patient-reported quality o…
Longitudinal imaging highlights preferential basal ganglia circuit atrophy in Huntington’s disease Open
Huntington’s disease is caused by a CAG repeat expansion in the Huntingtin gene (HTT), coding for polyglutamine in the Huntingtin protein, with longer CAG repeats causing earlier age of onset. The variable ‘Age’ × (‘CAG’—L), where ‘Age’ is…
Factors Impacting Quality of Life in Multiple System Atrophy Open
Background Multiple system atrophy (MSA) is an atypical parkinsonian disorder that involves parkinsonism, cerebellar ataxia, and autonomic dysfunction. Patient-reported quality of life is an important benchmark for clinicians and clinical …
Rhythmic auditory cueing in atypical parkinsonism: A pilot study Open
Rhythmic auditory cueing (RAC) can improve gait parameters in neurological disorders such as Parkinson's disease and stroke. However, there is a lack of research on the effects of RAC in patients with atypical parkinsonian disorders (APD).…
View article: Safety and feasibility of research lumbar puncture in Huntington’s disease: the HDClarity cohort and bioresource
Safety and feasibility of research lumbar puncture in Huntington’s disease: the HDClarity cohort and bioresource Open
STRUCTURED ABSTRACT Background Biomarkers are needed to monitor disease progression, target engagement and efficacy in Huntington’s disease (HD). Cerebrospinal fluid (CSF) is an ideal medium to research such biomarkers due to its proximity…
Impaired response of cerebral oxygen metabolism to visual stimulation in Huntington’s disease Open
Huntington’s disease (HD) is a neurodegenerative disease caused by a CAG triplet repeat expansion in the Huntingtin gene. Metabolic and microvascular abnormalities in the brain may contribute to early physiological changes that subserve th…
Association of Progressive Supranuclear Palsy Rating Scale with Progressive Supranuclear Palsy Quality of Life Scale Open
Introduction: There is growing interest in using patient-reported outcomes as end points in clinical trials, such as the progressive supranuclear palsy quality of life (PSP-QoL) scale. However, this tool has not been widely validated and i…
Movement Disorder Society Task Force Viewpoint: Huntington's Disease Diagnostic Categories Open
Huntington's disease (HD) is traditionally considered as a triad of movement, cognitive, and emotional disorders.1-4 According to current clinical practice, "manifest HD" is diagnosed primarily according to motor criteria, that is, when a …
View article: CSF neurofilament light chain and phosphorylated tau 181 predict disease progression in PSP
CSF neurofilament light chain and phosphorylated tau 181 predict disease progression in PSP Open
Both CSF p-tau and NfL correlate with disease severity and rate of disease progression in PSP. The inverse correlation of p-tau with disease severity suggests a potentially different mechanism of tau pathology in PSP as compared to Alzheim…
Potential biomarker breakthrough for Huntington's disease Open
Huntington's disease, with a single genetic cause and correlation between age of onset and length of the CAG repeat in the huntingtin gene (HTT), has long served as a model for neurodegenerative diseases. Predictive genetic testing has mad…
Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy Open
Patients with pathogenic truncating mutations in the prion gene (PRNP) usually present with prolonged disease courses with severe neurofibrillary tangle and cerebral amyloidosis pathology, but more atypical phenotypes also occur, including…
Power calculations and placebo effect for future clinical trials in progressive supranuclear palsy Open
Background Two recent randomized, placebo‐controlled trials of putative disease‐modifying agents (davunetide, tideglusib) in progressive supranuclear palsy (PSP) failed to show efficacy, but generated data relevant for future trials. Metho…
Plasma neurofilament light chain predicts progression in progressive supranuclear palsy Open
Objective Blood‐based biomarkers for neurodegenerative conditions could improve diagnosis and treatment development. Neurofilament light chain (NfL), a marker of axonal injury, is elevated in cerebrospinal fluid ( CSF ) of patients with pr…