A5028834309- Neurogenetic and Muscular Disorders Research
- Congenital Anomalies and Fetal Surgery
- Neurological disorders and treatments
- Genetic Neurodegenerative Diseases
- Lysosomal Storage Disorders Research
- RNA modifications and cancer
- Ion channel regulation and function
- Muscle Physiology and Disorders
- Trypanosoma species research and implications
- Autoimmune Neurological Disorders and Treatments
- RNA regulation and disease
- RNA Research and Splicing
- Botulinum Toxin and Related Neurological Disorders
- Cellular transport and secretion
- Congenital Diaphragmatic Hernia Studies
- Inflammatory Myopathies and Dermatomyositis
- Trigeminal Neuralgia and Treatments
- Tracheal and airway disorders
- Folate and B Vitamins Research
- Calcium signaling and nucleotide metabolism
- Spinal Cord Injury Research
- Cerebrospinal fluid and hydrocephalus
- Hereditary Neurological Disorders
- Myasthenia Gravis and Thymoma
- Cervical and Thoracic Myelopathy
SUNY Upstate Medical University
2017-2025
Wadsworth Center
2022
New York State Department of Health
2022
Columbia University
2022
University of Rochester
2022
Montefiore Medical Center
2022
Cohen Children's Medical Center
2022
Albany Medical Center Hospital
2022
Stony Brook University
2022
University at Buffalo, State University of New York
2022
Objective Infantile‐onset spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality, typically resulting in death preceding age 2. Clinical trials this population require an understanding disease progression and identification meaningful biomarkers to hasten therapeutic development predict outcomes. Methods A longitudinal, multicenter, prospective natural history study enrolled 26 SMA infants 27 control aged <6 months. Recruitment occurred at 14 centers over 21...
This study prospectively assessed putative promising biomarkers for use in assessing infants with spinal muscular atrophy (SMA).This prospective, multi-center natural history targeted the enrollment of SMA and healthy control less than 6 months age. Recruitment occurred at 14 centers within NINDS National Network Excellence Neuroscience Clinical Trials (NeuroNEXT) Network. Infant motor function scales electrophysiological, protein molecular were baseline subsequent visits.Enrollment began...
Spinal muscular atrophy (SMA) was added to the Recommended Uniform Screening Panel in July 2018 largely on basis of availability and efficacy newly approved disease-modifying therapies. New York State (NYS) started universal newborn screening for SMA October 2018. The authors report findings from first 3 years screening.Statewide neonatal conducted using DNA extracted dried blood spots a real-time quantitative PCR assay. Retrospective follow-up data were collected 9 referral centers across...
Abstract Reliable outcome measures that reflect the underlying disease process and correlate with motor function in children SMA are needed for clinical trials. Maximum ulnar compound muscle action potential (CMAP) data were collected at two visits over a 4–6‐week period types II III, 2–17 years of age, four academic centers. Primary functional included Modified Hammersmith Functional Motor Scale (MHFMS) MHFMS‐Extend. CMAP negative peak amplitude area showed excellent discrimination between...
ABSTRACT Introduction: The aim of this study was to determine the safety and therapeutic potential L ‐carnitine valproic acid (VPA) in infants with spinal muscular atrophy (SMA). Methods: Our investigation an open‐label phase 2 multicenter trial VPA SMA type I retrospective comparison untreated, matched cohort. Primary outcomes were: adverse events; secondary were survival, time death/>16 hours/day ventilator support; motor outcomes; maximum ulnar compound action amplitude. Results: A...
Recruitment and retention of research participants are challenging critical components successful clinical trials natural history studies. Infants with spinal muscular atrophy (SMA) have been a particularly population to study due their fragile complex medical issues, poor prognosis and, until 2016, lack effective therapies. healthy infants into studies is also sometimes assumed not be feasible.In 2011, our group initiated two-year, longitudinal SMA infant controls provide data assist in the...
Myelin basic protein (MBP) contributes to peripheral and central nervous system myelin. Developmental myelinopathies exist on a clinical spectrum, but MBP is not included leukodystrophy or CMT gene panels. This ring chromosome 18 case presents serial MRI EMG/NCS, shedding light the early course of disorder.
Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a very rare neurodegenerative lysosomal storage disorder. Progression rapid and irreversible, making early diagnosis crucial for timely treatment. A group of pediatric neurologists neuroradiologists with expertise in CLN2 convened to discuss electroencephalogram (EEG) magnetic resonance imaging (MRI) findings diagnosis. Of 18 cases, 16 (88.9%) had background slowing epileptiform discharges on initial EEG. Seven 17 (41.2%) patients who...
Fibrocartilaginous embolic infarction of the spinal cord is a rare cause acute back pain and motor weakness. Most symptoms start after minor trauma that often considered harmless forgotten, however these injuries can result in lethal consequences. It quite to diagnose fibrocartilaginous embolism timely manner treatment prevent poor outcomes. We present case previously healthy eight-year-old female with sudden onset neck progressive bilateral upper extremity weakness following an injury while...
(Abstracted from Genet Med 2020;22:1296–1302) Spinal muscular atrophy (SMA) is a neurodevelopmental disorder that associated with muscle weakness and atrophy. There are several subtypes categorized as SMA type 1 (presenting in early infancy), where infants unable to sit unassisted; 2 between 6 18 months of age), patients walk independently; 3 after some were able independently, but others lose this ability; 4 adulthood), which rare less severe.
We show how biopsy, EMG, and DMPK1 gene testing may be required for variant resolution. Whole exome sequencing revealed NEB (nebulin) (OMIM #161650) variants of uncertain significance inherited in trans. Muscle biopsy EMG were helpful resolving VUS (variants significance) the detection myotonia even as young 6 days age, with a clinically asymptomatic mother.