A5050948560- Parkinson's Disease Mechanisms and Treatments
- Hereditary Neurological Disorders
- Cardiovascular Syncope and Autonomic Disorders
- Botulinum Toxin and Related Neurological Disorders
- Genetic Neurodegenerative Diseases
- Neurological disorders and treatments
- Neurological diseases and metabolism
- Heart Rate Variability and Autonomic Control
- Obstructive Sleep Apnea Research
- Neuroscience of respiration and sleep
- Migraine and Headache Studies
- Endoplasmic Reticulum Stress and Disease
- RNA regulation and disease
- Peripheral Neuropathies and Disorders
- Alzheimer's disease research and treatments
- Mitochondrial Function and Pathology
- Sleep and Wakefulness Research
- Organ Donation and Transplantation
- Neurogenetic and Muscular Disorders Research
- Autoimmune Neurological Disorders and Treatments
- Takotsubo Cardiomyopathy and Associated Phenomena
- Cellular Mechanics and Interactions
- Neurology and Historical Studies
- Neurological Complications and Syndromes
- History of Medicine Studies
New York University
2015-2024
Novartis (United States)
2024
University of California, San Francisco
2024
Dysautonomia Foundation
2013-2023
University of Colorado Anschutz Medical Campus
2023
Beth Israel Deaconess Medical Center
2023
University of Bologna
2022
NYU Langone Health
2017-2022
University Medical Center
2013-2022
Istituto delle Scienze Neurologiche di Bologna
2022
To define the clinical features and biomarkers that predict which patients with pure autonomic failure will develop Parkinson disease, dementia Lewy bodies, or multiple system atrophy.One hundred who presented were recruited at 5 medical centers in United States. Seventy-four agreed to be followed prospectively. Patients underwent evaluations including neurological rating scales, sleep questionnaires, smell test, sympathetic parasympathetic cardiovascular function tests.At enrollment, 68 ±...
Objective Blunted tachycardia during hypotension is a characteristic feature of patients with autonomic failure, but the range has not been defined. This study reports orthostatic heart rate (HR) changes in failure caused by neurodegenerative synucleinopathies. Methods Patients evaluated at sites U.S. Autonomic Consortium (NCT01799915) underwent standardized function tests and full neurological evaluation. Results We identified 402 (OH) who had normal sinus rhythm. Of these, 378 impaired...
The diagnosis of Parkinson's disease (PD) and atypical parkinsonian syndromes is difficult due to the lack reliable, easily accessible biomarkers. Multiple system atrophy (MSA) a synucleinopathy whose symptoms often overlap with PD. Exosomes isolated from blood by immunoprecipitation using CNS markers provide window into brain's biochemistry may assist in distinguishing between PD MSA. Thus, we asked whether α-synuclein (α-syn) such exosomes could distinguish among healthy individuals,...
Multiple system atrophy (MSA) is a progressive neurodegenerative disorder caused by the abnormal accumulation of α-synuclein in nervous system. Clinical features include autonomic and motor dysfunction, which overlap with those Parkinson disease (PD), particularly at early stages. There an unmet need for accurate diagnostic prognostic biomarkers MSA and, specifically, critical to distinguish from other synucleinopathies, PD. The purpose study was develop unique cutaneous pathologic signature...
ABSTRACT Orthostatic hypotension (OH) is frequent in patients with Parkinson's disease (PD) and can occur or without symptoms. Pharmacological treatments are effective, but often exacerbate supine hypertension. Guidelines exist for the diagnosis, not treatment of OH. We examined relationship between blood pressure (BP) symptoms a cohort PD goal identifying hemodynamic target to guide treatment. measured BP upright (tilt active standing) identified presence absence symptomatic OH by using...
Highlights•Generation of a foundational genomic resource in multiple system atrophy•GWAS identifies novel risk loci at GAB1, lnc-LRRC49-3, TENM2, and RABGEF1•Functional genomics implicates USP38-DT, KCTD7, lnc-KCTD7-2 within these loci•Gene-burden analysis nominal enrichment rare missense mutations KCTD7SummaryMultiple atrophy (MSA) is an adult-onset, sporadic synucleinopathy characterized by parkinsonism, cerebellar ataxia, dysautonomia. The genetic architecture MSA poorly understood,...
Abstract We aimed to describe the clinical features of patients with pure autonomic failure (PAF) preceding phenoconversion that could be useful as predictive markers for advancing α-synuclein-associated neurodegeneration brain. Patients diagnosed PAF were evaluated at eight centres (seven US-based and one European) enrolled in a longitudinal observational cohort study (NCT01799915). Subjects underwent detailed assessments motor, sleep, olfactory, cognitive function followed prospectively...
Many migraineurs who seek care in headache clinics are refractory to treatment, despite advances therapies. Epidemiology is poorly characterized, because diagnostic criteria for migraine were not available until recently. We aimed determine the frequency of patients attended Headache Unit a tertiary center, according recently proposed criteria.The study population consisted consecutive sample 370 (60.8% females) with mean age 43 years (range 14-86) evaluated first time our unit over one-year...
Obstructive Sleep Apnea (OSA) is a major risk factor for cardiovascular disease. The goal of this study was to demonstrate whether the use CPAP produces significant changes in heart rate or variability patients with OSA first night treatment and gender obesity play role these differences.Single-center transversal including severe corrected CPAP. Only total correction after were included. Patients underwent two sleep studies on consecutive nights: basal study, second We also analyzed their...
Neurogenic orthostatic hypotension (nOH) is a fall in blood pressure (BP) on standing due to reduced norepinephrine release from sympathetic nerve terminals. nOH feature of several neurological disorders that affect the autonomic nervous system, most notably Parkinson disease (PD), multiple system atrophy (MSA), pure failure (PAF), and other neuropathies. Droxidopa, an orally active synthetic amino acid converted by enzyme aromatic L-amino decarboxylase (dopa-decarboxylase), was recently...
Orthostatic hypotension (OH) is a sustained fall in blood pressure on standing which can cause symptoms of organ hypoperfusion. OH associated with increased morbidity and mortality leads to significant number hospital admissions particularly the elderly (233 per 100,000 patients over 75 years age US). be due volume depletion, loss, large varicose veins, medications, or defective activation sympathetic nerves reduced norepinephrine release upon (i.e., neurogenic OH).