A5034551199- Genetic Neurodegenerative Diseases
- Neurological disorders and treatments
- Botulinum Toxin and Related Neurological Disorders
- Psychosomatic Disorders and Their Treatments
- Parkinson's Disease Mechanisms and Treatments
- Lysosomal Storage Disorders Research
- Mental Health and Psychiatry
- Peroxisome Proliferator-Activated Receptors
- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Neurological and metabolic disorders
- Cardiovascular Function and Risk Factors
- Neurology and Historical Studies
- Nuclear Receptors and Signaling
- Vestibular and auditory disorders
- Retinoids in leukemia and cellular processes
- Health Systems, Economic Evaluations, Quality of Life
- RNA regulation and disease
- Neonatal and fetal brain pathology
- Genetics and Neurodevelopmental Disorders
- Complementary and Alternative Medicine Studies
- Restless Legs Syndrome Research
- Protein Degradation and Inhibitors
- Genital Health and Disease
Massachusetts General Hospital
2016-2025
Harvard University
2016-2025
Mass General Brigham
2025
Primary Children's Hospital
2024
Precision for Medicine (United States)
2024
American Physical Therapy Association
2022
University of Pennsylvania
2022
Massachusetts Eye and Ear Infirmary
2020-2021
Universitätsklinikum Knappschaftskrankenhaus Bochum
2020
University Hospital of Bern
2020
ABSTRACT Background The Patient‐Reported Outcome Measure of Ataxia (PROM‐Ataxia) has been validated cross‐sectionally but not longitudinally. Objective We aimed to validate PROM‐Ataxia as a measure patient experience disease over time, examine overall and domain‐specific progression, test convergent validity with other clinical outcome assessments (COAs). Methods derived data from 176 patients spinocerebellar ataxia types 1, 2, 3, 6, 7, 8, or 10 in the Clinical Research Consortium for Study...
<h3>Importance</h3> There is limited information about health care use and costs in patients with functional neurological disorders (FNDs). <h3>Objective</h3> To assess US emergency department (ED) inpatient charges for FNDs. <h3>Design, Setting, Participants</h3> This economic evaluation used Healthcare Cost Utilization Project data to all-payer (1) adult (age, ≥18 years) hospitalizations (2008-2017), (2) pediatric 5-17 (2003, 2006, 2009, 2012, 2016), (3) ED evaluations...
To ascertain demographic and clinical features of Parkinson disease (PD) associated with functional neurological features.A standardised form was used to extract data from electronic records 53 PD patients disorders (PD-FND) across eight movement centres in the USA, Canada Europe. These subjects were matched for age, gender duration without (PD-only). Logistic regression analysis compare both groups after adjusting clustering effect.Functional symptoms preceded or co-occurred onset 34%...
The aim of the study was to assess US inpatient and emergency department (ED) charges for functional neurologic disorder (FND), investigate subtype variations, compare costs with research funding. We used 2009-2019 Healthcare Cost Utilization Project data adult pediatric inpatient/ED stays associated in 2019 inflation-adjusted dollars, ICD-10-defined FND (F.44.4-F44.7) vs comparators neuroinflammatory/demyelinating diseases, refractory epilepsy, anterior horn cell diseases. NIH funding...
Technologies that enable frequent, objective, and precise measurement of ataxia severity would benefit clinical trials by lowering participation barriers improving the ability to measure disease state change. We hypothesized analyzing characteristics sub-second movement profiles obtained during a reaching task be useful for objectively quantifying motor ataxia. Participants with (N=88), participants parkinsonism (N=44), healthy controls (N=34) performed computer tablet version finger-to-nose...
Abstract Background Objective assessments of movement impairment are needed to support clinical trials and facilitate diagnosis. The objective the current study was determine if a rapid web‐based computer mouse test (Hevelius) could detect accurately measure ataxia parkinsonism. Methods Ninety‐five ataxia, 46 parkinsonism, 29 control participants 229,017 online completed Hevelius. We trained machine‐learning models on age‐normalized Hevelius features (1) severity disease progression (2)...
Abstract Background and purpose Despite enormous advances in identifying genetic variants responsible for many neurological diseases, access to testing may be limited clinical practice. The objective of this study was assess worldwide tests movement disorders factors impacting their utilization. Methods Rare Movement Disorders Study Group the International Parkinson Disorder Society designed an online survey electronically mailed all 7815 members. Results Survey data completed by 1269...
Abstract X-linked dystonia parkinsonism is a neurodegenerative movement disorder that affects men whose mothers originate from the island of Panay, Philippines. Current evidence indicates most likely cause an expansion in TAF1 gene may be amenable to treatment. To prepare for clinical trials therapeutic candidates parkinsonism, we focused on identification quantitative phenotypic measures are strongly associated with disease progression. Our main objective establish comprehensive, assessment...
Despite promising research and consensus recommendations on the important therapeutic role of physical therapy for motor functional neurological disorder (FND), little is known about feasibility potential efficacy implementing this population in a U.S.-based outpatient program. Given health care system differences internationally, an gap literature.In retrospective cohort study, authors investigated relationship between treatment adherence clinical outcome hospital-based Medical records 50...
Spinocerebellar ataxia type 35 (SCA35) is a rare autosomal-dominant neurodegenerative disease caused by mutations in the TGM6 gene, which codes for transglutaminase 6 (TG6). Mutations TG6 induce cerebellar degeneration an unknown mechanism. We identified seven patients bearing new TGM6. To gain insights into molecular basis of mutant TG6-induced neurotoxicity, we analyzed all mutants and five previously linked to SCA35. found that wild-type (TG6-WT) protein mainly localized nucleus...
The late-onset GM2 gangliosidoses, comprising Tay-Sachs and Sandhoff diseases, are rare, slowly progressive, neurogenetic disorders primarily characterized by neurogenic weakness, ataxia, dysarthria. aim of this longitudinal study was to characterize the natural history gangliosidoses using a number clinical outcome assessments measure different aspects disease burden progression over time, including neurological, functional, quality life, inform design future interventional trials. Patients...
Several non-motor features may individually contribute to identify prodromal Parkinson's disease (PD), but little is known on how they interact.We conducted a case-control study nested within the Health Professionals Follow-up Study in large cohort of men age 40-75 at recruitment 1986. Cases (n=120) had confirmed PD, were<85 January 2012, returned 2012 questionnaire with questions probable rapid eye movement sleep behaviour disorder (RBD) and constipation sent all participants completed 2014...
Eye movements are disrupted in many neurodegenerative diseases and frequent early features conditions affecting the cerebellum. Characterizing eye is important for diagnosis may be useful tracking disease progression response to therapies. Assessments limited as they require an in-person evaluation by a neurology subspecialist or specialized expensive equipment. We tested hypothesis that movement abnormalities cerebellar disorders (i.e., ataxias) could captured from iPhone video. Videos of...
Assessment of motor severity in cerebellar ataxia is critical for monitoring disease progression and evaluating the effectiveness therapeutic interventions. Though wearable sensors have been used to monitor gait tasks order enable frequent assessment, existing solutions only estimate performance rather than comprehensive severity. In this study, we propose a new approach that analyzes sub-second movement profiles lower-limbs during overall ataxia.A total 37 subjects 12 healthy performed 5 m...