Jove
Visualize
Contact Us

Related Experiment Videos

Familial dysautonomia.

Felicia B Axelrod1

  • 1Departments of Pediatrics and Neurology, New York University Medical Center, 530 First Avenue, New York, New York 10016, USA. Felicia.Axelrod@ccmail.med.nyu.edu

Muscle & Nerve
|February 26, 2004
PubMed
Summary
This summary is machine-generated.

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

Obstructive Sleep-Disordered Breathing Is More Common than Central in Mild Familial Dysautonomia.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine·2016
Same author

Disturbances in affective touch in hereditary sensory & autonomic neuropathy type III.

International journal of psychophysiology : official journal of the International Organization of Psychophysiology·2014
Same author

Relationship between proprioception at the knee joint and gait ataxia in HSAN III.

Movement disorders : official journal of the Movement Disorder Society·2013
Same author

Genetic autonomic disorders.

Seminars in pediatric neurology·2013
Same author

Cardiac-locked bursts of muscle sympathetic nerve activity are absent in familial dysautonomia.

The Journal of physiology·2012
Same author

Cyclic vomiting associated with excessive dopamine in Riley-day syndrome.

Journal of clinical gastroenterology·2012
Same journal

Characterizing Combined Central and Peripheral Demyelination-Insights From a Multimodal Comparison With Chronic Inflammatory Demyelinating Polyneuropathy and Multiple Sclerosis.

Muscle & nerve·2026
Same journal

Electrical Modalities in the Rehabilitation of Peripheral Nerve Injuries: State of the Literature and Current Clinical Applications.

Muscle & nerve·2026
Same journal

Reply to "Sural/Radial Amplitude Ratio in Non-Length-Dependent Neuropathy (NLDN): A Call for More Standardized Methodology and Further Evaluation of Distal NLDN".

Muscle & nerve·2026
Same journal

Late-Onset Myasthenia Gravis: An Increasingly Frequent Clinical Entity With Distinctive Challenges.

Muscle & nerve·2026
Same journal

Clinical Characteristics and Treatment Management of Seronegative Myasthenia Gravis: A Systematic Review of the Literature.

Muscle & nerve·2026
Same journal

Muscle-Specific Kinase Signaling and Its Therapeutic Potential.

Muscle & nerve·2026
See all related articles
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

Familial dysautonomia (FD) is a genetic disorder affecting nerve development and maintenance. Identifying the IKBKAP gene offers hope for future definitive treatments for this progressive neuropathy.

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Familial dysautonomia (FD) is a rare neurodevelopmental genetic disorder.
  • It falls under hereditary sensory and autonomic neuropathies, caused by specific genetic errors.
  • The IKBKAP gene has been identified as the cause of FD.

Purpose of the Study:

  • To describe the genetic basis and clinical manifestations of Familial Dysautonomia.
  • To highlight the neuropathological findings and progression of the disease.
  • To discuss the current prognosis and future treatment possibilities.

Main Methods:

  • Genetic analysis to identify the IKBKAP gene.
  • Neuropathological examination of affected neurons.
  • Clinical assessment of sensory, autonomic, and central nervous system functions.

Related Experiment Videos

Main Results:

  • Mutations in IKBKAP lead to tissue-specific expression of mutant IKAP.
  • Pathological findings include a decrease in unmyelinated and small-fiber neurons.
  • Clinical features encompass sensory loss, autonomic dysfunction (e.g., vomiting crises, blood pressure lability), and central dysfunction (e.g., ataxia).

Conclusions:

  • The genetic defect in IKBKAP underlies Familial Dysautonomia, affecting neuronal development and maintenance.
  • Despite progressive nature, supportive care has improved prognosis, with many patients living past 20.
  • Discovery of the genetic cause paves the way for anticipated definitive treatments.