Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Fabry disease: impaired autonomic function.

W J Cable, E H Kolodny, R D Adams

    Neurology
    |May 1, 1982
    PubMed
    Summary
    This summary is machine-generated.

    Fabry disease causes autonomic nervous system dysfunction, impacting sweating, pupil response, and digestion. These symptoms correlate with lipid buildup in autonomic neurons, affecting nerve function.

    Related Concept Videos

    You might also read

    Related Articles

    Articles linked to this work by shared authors, journal, and citation graph.

    Sort by
    Same author

    Occupational burnout among radiation therapists in Australia: Findings from a mixed methods study.

    Radiography (London, England : 1995)·2017
    Same author

    Generalized Hyperalgesia in Children and Adults Diagnosed With Hypermobility Syndrome and Ehlers-Danlos Syndrome Hypermobility Type: A Discriminative Analysis.

    Arthritis care & research·2016
    Same author

    National toxicovigilance for pesticide exposures resulting in health care contact - An example from the UK's National Poisons Information Service.

    Clinical toxicology (Philadelphia, Pa.)·2014
    Same author

    GM2 gangliosidosis in British Jacob sheep.

    Journal of comparative pathology·2013
    Same author

    Using the unbiased perspectives of people living with a spinal cord injury in assessments of mobility.

    Spinal cord·2013
    Same author

    Pathology of GM2 gangliosidosis in Jacob sheep.

    Veterinary pathology·2010
    Same journal

    Spatiotemporal Associations Between Cortical Microinfarcts and Cortical Superficial Siderosis in Cerebral Amyloid Angiopathy.

    Neurology·2026
    Same journal

    Blood-Brain Barrier Disruption Before Interhospital Transfer for Thrombectomy and Clinical Outcome.

    Neurology·2026
    Same journal

    Cerebral Artery Pulsatility, Premorbid Blood Pressure, and Small Vessel Disease on Brain Imaging: A Population-Based Study.

    Neurology·2026
    Same journal

    Genetic Risk for Alzheimer Disease, Midlife Hypertension, and Dementia: The ARIC Neurocognitive Study.

    Neurology·2026
    Same journal

    What is the Relevance of Neuron-Tumor Interactions in Malignant CNS Tumors?

    Neurology·2026
    Same journal

    Putamen Dopamine Synthesis, Vesicular Storage, and Metabolism in Patients With Parkinson Disease.

    Neurology·2026
    See all related articles

    Area of Science:

    • Neurology
    • Genetics
    • Metabolic Disorders

    Background:

    • Fabry disease is a rare genetic disorder characterized by lipid accumulation.
    • Lipid deposition in autonomic neurons is suspected to cause various symptoms.
    • Autonomic dysfunction is a recognized but not fully understood aspect of Fabry disease.

    Purpose of the Study:

    • To investigate autonomic function in patients with Fabry disease.
    • To correlate clinical findings with known neuropathologic changes.
    • To assess specific autonomic functions including sweating, pupillary response, and gastrointestinal motility.

    Main Methods:

    • Noninvasive clinical tests were administered to 10 patients diagnosed with Fabry disease.
    • Evaluated functions included sweating, pupillary constriction response to pilocarpine, saliva and tear production, intestinal motility, and cutaneous flare response.

    Related Experiment Videos

  • Histamine and scratch tests were used to assess skin responses.

    • Main Results:

    • All patients exhibited diminished sweating, suggesting sweat gland dysfunction.
    • Half of the patients showed impaired pupillary constriction, reduced saliva, and tear formation.
    • Older patients displayed disordered intestinal motility, and all patients had diminished cutaneous flare response to stimuli.

    Conclusions:

    • Autonomic dysfunction is a significant clinical feature of Fabry disease.
    • The observed symptoms correlate with lipid deposition in autonomic neurons.
    • Fabry disease affects multiple autonomic functions, contributing to patient symptomatology.