A5030048574- Lysosomal Storage Disorders Research
- Genetic Neurodegenerative Diseases
- Cellular transport and secretion
- Cerebrovascular and genetic disorders
- Neurological disorders and treatments
- Glycogen Storage Diseases and Myoclonus
- Parkinson's Disease Mechanisms and Treatments
- Glycosylation and Glycoproteins Research
- Neurological diseases and metabolism
- Galectins and Cancer Biology
- Moyamoya disease diagnosis and treatment
- Carbohydrate Chemistry and Synthesis
- Trypanosoma species research and implications
- Genetics and Neurodevelopmental Disorders
- Mitochondrial Function and Pathology
- Hereditary Neurological Disorders
- Botulinum Toxin and Related Neurological Disorders
- Biochemical and Molecular Research
- Child Nutrition and Feeding Issues
- Health Systems, Economic Evaluations, Quality of Life
- Innovative Teaching and Learning Methods
- Image and Video Quality Assessment
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Fetal and Pediatric Neurological Disorders
- Peroxisome Proliferator-Activated Receptors
CHDI Foundation
2020-2025
NYU Langone Health
2009-2024
Rutgers, The State University of New Jersey
2016-2022
Rutgers New Jersey Medical School
2016-2022
Amicus Therapeutics (United States)
2017-2018
New York Medical College
2015
St. Joseph’s University Medical Center
2014
New York University
2006-2013
St. Joseph Regional Medical Center
2013
Columbia University Irving Medical Center
2008-2011
Abstract Among the genes implicated for parkinsonism is glucocerebrosidase (GBA), which causes Gaucher disease (GD). Despite a growing literature that GD may present as parkinsonism, neuroimaging, olfaction, and neuropsychological testing have not been extensively reported. We describe transcranial sonography (TCS), 18F‐fluorodopa (F‐dopa) fluorodeoxyglucose (FDG) Positron emission tomography, olfaction testing, clinical features in homozygous compound heterozygous GBA mutation carriers...
ABSTRACT Background Applying machine‐learning algorithms to large datasets such as those available in Huntington's disease offers the opportunity discover hidden patterns, often not discernible clinical observation. Objectives To develop and validate a model of progression using probabilistic machine learning methods. Methods Longitudinal data encompassing 2079 assessment measures from four observational studies (PREDICT‐HD, REGISTRY, TRACK‐HD, Enroll‐HD) were integrated methods (Bayesian...
Background Current functional rating scales are not sensitive to the earliest changes in Huntington's disease (HD). Objective The Functional Rating Scale 2.0 (FuRST 2.0) is a patient-reported outcome (PRO) measure designed be initial HD, specifically stage 2 and mild 3, as defined by Disease Integrated Staging System (HD-ISS). Methods We followed standard assessment development methodology create PRO. Study 1 consisted of Delphi panel which analyzed data from focus groups comprised people...
Characterize the phenomenon of acute confusional migraine (ACM) among Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) patients emphasize possibility CADASIL in adults ACM.ACM, well described children, has rarely been reported adults. Although 30-60% have migraine, state during not described. We describe 7 ACM that complicated up to 50% episodes.Detailed neurologic evaluation was performed 20 patients; International Classification Headache...
Abstract Background Minimal clinically important difference (MCID) represents the smallest within‐person change on an outcome measure considered meaningful to patient. Anchor‐based MCID methods evaluate relationship between changes in and patient‐reported clinical importance of that change. Objective This study aims estimate longitudinal for relevant measures individuals who have Stages 2 or 3 disease as measured by Huntington's Disease Integrated Staging System (HD‐ISS). Methods Data were...
Background: Biomarkers are needed to monitor disease progression, target engagement and efficacy in Huntington’s (HD). Cerebrospinal fluid (CSF) is an ideal medium research such biomarkers due its proximity the brain. Objective: To investigate safety feasibility of lumbar punctures (LP) HD. Methods: HDClarity ongoing international biofluid collection initiative built on Enroll-HD platform, where clinical assessments recorded. It aims recruit 1,200 participants. Biosamples collected following...
Our website uses cookies to enhance your experience. By continuing use our site, or clicking "Continue," you are agreeing Cookie Policy | Continue
OBJECTIVE: Emphasize similarities in clinical and radiologic findings of multiple sclerosis (MS) cerebral autosomal dominant arteriopathy with sub cortical infarcts leukoencephalopathy (CADASIL) order to prevent diagnostic delay. BACKGROUND: CADASIL is hereditary condition causing migraine, strokes dementia. Characteristic cysteine-involving mutation Notch3 simplifies molecular diagnosis. Nonetheless, there remains substantial delay Due presentation risk missed diagnosis considerable....
Background Understanding the sensitivity and utility of clinical assessments across different HD stages is important for study/trial endpoint selection assessment development. The Integrated Progression Model (IHDPM) characterizes complex symptom progression separates disease into nine ordered states. Objective To generate a temporal map discriminatory measures IHDPM Methods We applied to all individuals in an integrated longitudinal dataset derived from four observational studies, obtaining...
To highlight unusual brain MRI findings suggestive of familial cavernous malformation in CADASIL.