Dysautonomia Center Research | NYU Langone Health

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Division of Autonomic Disorders Dysautonomia Center Research

Dysautonomia Center Research

The Dysautonomia Center’s research team, led by Horacio Kaufmann, MD, and Lucy J. Norcliffe-Kaufmann, PhD, has made a number of discoveries that have changed our understanding of autonomic disorders and brought new treatment options to people living with autonomic dysfunction. Our primary focus is on neurological conditions that affect the autonomic nervous system. We also translate laboratory findings into specific treatments for autonomic disorders. Learn more about our clinical trials.

The Dysautonomia Center is the leading site for research on and treatment of familial dysautonomia (FD). Our research program is supported by the Familial Dysautonomia Foundation, Inc., and we receive grant funding from the National Institutes of Health (NIH), the U.S. Food and Drug Administration (FDA), The Michael J. Fox Foundation for Parkinson’s Research, and the Multiple System Atrophy Coalition.

Our research team includes scientists and physician–scientists who have diverse backgrounds in physiology, neurology, sleep medicine, movement disorders, medicine, and psychiatry. Our team also includes research coordinators, project assistants, and data managers who manage databases and project logistics.

Autonomic Disorders Consortium

The Dysautonomia Center is a member of the Autonomic Disorders Consortium, an NIH-funded initiative to bring new therapies to patients with rare autonomic disorders. The center was a founding member of the Autonomic Disorders Consortium, which brings together expert sites in a collaborative effort. The center leads the international natural history study of synucleinopathies, which aims to better understand the autonomic features of Parkinson’s disease, dementia with Lewy bodies, and multiple system atrophy, as well as how to diagnose these diseases in the earliest stages, when there is the best chance of preserving function. Investigators at the Dysautonomia Center are focused on defining the natural history of pure autonomic failure, which is a rare condition characterized by neurological damage that affects the control of blood pressure. Founded in 2009, the Autonomic Disorders Consortium connects patient support groups with physicians and investigators in the medical centers where these patients are cared for, in order to discover ways to treat and cure these disorders.

Research Collaborators

Because the autonomic nervous system innervates all organs of the body, we collaborate with a number of specialists in a multidisciplinary approach. We work with experts across NYU Langone in our research and clinical trials. Collaborators include Stuart D. Katz, MD; Harmony R. Reynolds, MD; Howard Trachtman, MD; Mikhail Kazachkov, MD; Leela V. Raju, MD; Joseph Levy, MD; Jennifer A. Frontera, MD; Thomas M. Wisniewski, MD; Timothy M. Shepherd, MD, PhD; Lea Ann Chen, MD; and Alex Reyentovich, MD.

Collaborators outside of NYU Langone include:

  • Susan A. Slaugenhaupt, PhD, professor of neurology (genetics) at Harvard Medical School
  • Roy Freeman, MD, professor of neurology at Harvard Medical School
  • Joel G. Gutierrez, MD, professor of neurology and clinical neurophysiology at Havana Medical University
  • Vaughan Macefield, PhD, professor of physiology at Western Sydney University
  • Frances Lefcort, PhD, professor of neurosciences at Montana State University
  • Italo Biaggioni, MD, professor of medicine at Vanderbilt University School of Medicine
  • Cyndya Shibao, MD, associate professor of medicine at Vanderbilt University School of Medicine
  • David Goldstein, MD PhD, senior investigator in the clinical neurocardiology section at the National Institute of Neurological Disorders and Stroke-NIH
  • Phillip Low, MD, professor of neurology at Mayo Clinic Rochester
  • Wolfgang Singer, MD, associate professor of neurology at Mayo Clinic Rochester
  • Gregor Wenning, professor of neurology at Medical University Innsbruck, Austria
  • Ori Efrati, MD, professor of pediatrics at Sheba Medical Center, Israel
  • Bat-el Bar Aluma, MD, assistant professor of pediatrics at Sheba Medical Center, Israel
  • Alex Gileles-Hillel, assistant professor of pediatrics, at Hadassah Medical Center, Israel

Clinical Autonomic Research Journal

Dr. Kaufmann is editor-in-chief of the journal Clinical Autonomic Research, published by Springer Nature, the official journal of the American Autonomic Society and the European Federation of Autonomic Societies. This bimonthly journal is dedicated to providing rapid communications on developments in the field. Clinical and research fellows have the opportunity to review submissions to Clinical Autonomic Research and establish themselves as peer reviewers.

Dysautonomia Center Discoveries

The Dysautonomia Center has made key discoveries that have shaped our understanding of autonomic neurology and have helped bring new treatments to the clinic. These include:

  • the first neuropathological studies on FD that describe the loss of sensory nerves
  • the first complete neuropathological description of pure autonomic failure, showing Lewy bodies in the peripheral autonomic nerves
  • the first neuropathological description of patients with Lewy bodies synucleinopathies presenting with long-standing isolated autonomic failure
  • the first reported evidence of end-organ target damage as a consequence of supine hypertension in patients with autonomic failure
  • a comprehensive study of the vasoactive peptides endothelin, atrial natriuretic peptide, and vasopressin in autonomic synucleinopathies
  • a description of the clinical features of FD and the impact of therapeutic interventions
  • innovative trials of midodrine and droxidopa, the two drugs primarily used in the treatment of chronic orthostatic hypotension caused by autonomic failure
  • a therapeutic trial of midodrine for the treatment of orthostatic hypotension in patients with FD
  • use of fundoplication to prevent aspiration pneumonia, leading to a dramatic increase in life expectancy in patients with FD
  • a brain MRI–based algorithm for the differential diagnosis of Parkinson’s disease and multiple-system atrophy
  • therapeutic trials of botulinum toxin type A in primary palmar hyperhidrosis and the first description of “subclinical” muscle weakness in the hand
  • the first complete description of a vestibular autonomic reflex in humans
  • identification of the mutation responsible for FD, in collaboration with Harvard University researchers
  • the discovery that the nutritional supplement kinetin corrects the mis-splicing defect responsible for FD
  • a study of adaptation to high altitude in Peruvian mountain dwellers
  • a report of the effect of water in improving blood pressure control
  • the discovery of the role of vascular sensitivity to hyperventilation in susceptibility to vasovagal syncope
  • the first study describing FD as a disease of afferent baroreflex failure
  • a description of the neurochemical basis for hypertensive vomiting attacks in FD
  • a description of the neurohormonal and autonomic profile during seizures in children with benign childhood autonomic seizures (Panayiotopoulos syndrome)
  • the first placebo-controlled, randomized clinical trial in FD showing that carbidopa relieves nausea
  • a description of the lack of proprioception in FD as a cause of gait ataxia
  • a description of optic neuropathy and progressive neuronal loss in the retinal nerve fiber layer in patients with FD
  • the first study in humans demonstrating that a nutritional supplement can reverse the gene deficit in FD and has potential as a gene therapy
  • a description of cardiac sympathetic denervation in a rare genetic form of Parkinson’s disease
  • development and validation of the Orthostatic Hypotension Questionnaire to measure symptoms and monitor the efficacy of therapies
  • the description of the natural history of patients with pure autonomic failure
  • the description of retinal abnormalities in patients with multiple system atrophy
  • the discovery and characterization of retinal pathology in patients with FD
  • the unraveling of risk factors for sudden death in patients with FD
  • the definition of orthostatic heart rate changes in patients with autonomic failure caused by neurodegenerative synucleinopathies

Selected Publications

Hypokalemia Associated With a Claudin 10 Mutation: A Case Report

Meyers, Nicole; Nelson-Williams, Carol; Malaga-Dieguez, Laura; Kaufmann, Horacio; Loring, Erin; Knight, James; Lifton, Richard P; Trachtman, Howard

American journal of kidney diseases. 2019 Mar ; 73:425-428

Early distinction of Parkinson-variant multiple system atrophy from Parkinson's disease [Letter]

Fanciulli, Alessandra; Goebel, Georg; Lazzeri, Giulia; Scherfler, Christoph; Gizewski, Elke R; Granata, Roberta; Kiss, Gusztav; Strano, Stefano; Colosimo, Carlo; Pontieri, Francesco E; Kaufmann, Horacio; Seppi, Klaus; Poewe, Werner; Wenning, Gregor K

Movement disorders. 2019 Mar ; 34:440-441

Resting Energy Expenditure in Patients with Familial Dysautonomia: A Preliminary Study

Aluma, Bat-El Bar; Norcliffe-Kaufmann, Lucy; Sarouk, Ifat; Dagan, Adi; Ashkenazi, Moshe; Bezalel, Yael; Vilozni, Daphna; Lahad, Avishay; Efrati, Ori

Journal of pediatric gastroenterology & nutrition. JPGN. 2019 Mar ; 68:422-427

Quantitative magnetic resonance evaluation of the trigeminal nerve in familial dysautonomia

Won, Eugene; Palma, Jose-Alberto; Kaufmann, Horacio; Milla, Sarah S; Cohen, Benjamin; Norcliffe-Kaufmann, Lucy; Babb, James S; Lui, Yvonne W

Clinical autonomic research. 2019 Feb 19;

The Clinical Autonomic Research journal 2019 and onward [Editorial]

Kaufmann, Horacio; Jordan, Jens

Clinical autonomic research. 2019 Feb ; 29:1-2

Improvement of daytime hypercapnia with nocturnal non-invasive ventilation in familial dysautonomia [Letter]

Kaufmann, Horacio; Norcliffe-Kaufmann, Lucy; Palma, Jose-Alberto

Clinical autonomic research. 2019 Jan 12;

Chemoreflex failure and sleep-disordered breathing in familial dysautonomia: Implications for sudden death during sleep

Palma, J-A; Gileles-Hillel, A; Norcliffe-Kaufmann, L; Kaufmann, H

Autonomic neuroscience. 2019; 218:10-15

Impaired sensorimotor control of the hand in congenital absence of functional muscle spindles

Smith, Lyndon J; Norcliffe-Kaufmann, Lucy; Palma, Jose-Alberto; Kaufmann, Horacio; Macefield, Vaughan G

Journal of neurophysiology. 2018 Dec 01; 120:2788-2795