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

Optic atrophy, hearing loss, and peripheral neuropathy.

K Hagemoser1, J Weinstein, G Bresnick

  • 1Department of Medical Genetics, University of Wisconsin-Madison.

American Journal of Medical Genetics
|May 1, 1989
PubMed
Summary

This study identifies a new autosomal dominant disorder causing early optic atrophy, hearing loss, and peripheral neuropathy in two families. The findings suggest distinct genetic causes for this triad of neurological symptoms.

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

Technical feasibility of a modern carbon dioxide (CO<sub>2</sub>) delivery device for carbodissection to aid cryoablation.

Clinical radiology·2026
Same author

Correlation of Inguinal Lymph Node Number and Volume with Lower Extremity Lymphedema Severity.

Lymphology·2024
Same author

Improving blood product management in placenta accreta patients with severe bleeding: institutional experience.

International journal of obstetric anesthesia·2023
Same author

'KMC-TDGL'-a coarse-grained methodology for simulating interfacial dynamics in complex fluids: application to protein-mediated membrane processes.

Molecular physics·2020
Same author

Impact of anti-obesity medication initiation and duration on weight loss in a comprehensive weight loss programme.

Obesity science & practice·2019
Same author

An anti-rickettsial antibiotic from a streptomycete, M-4209. I. Biological characterizations.

Antibiotics & chemotherapy (Northfield, Ill.)·2014

Area of Science:

  • Neuroscience
  • Genetics
  • Ophthalmology

Background:

  • Optic atrophy, hearing loss, and peripheral neuropathy can occur together in various genetic syndromes.
  • Previous classifications of these syndromes are based on symptom onset and inheritance patterns.

Observation:

  • Two families presented with a previously undescribed autosomal dominant disorder.
  • The disorder is characterized by severe, early-onset optic atrophy followed by hearing loss and peripheral neuropathy.

Findings:

  • This newly identified disorder is distinct from previously reported syndromes due to its early and severe optic atrophy and autosomal dominant inheritance.
  • Analysis of published cases suggests at least three distinct disorders presenting with this triad of symptoms.
  • Classification by the first-appearing symptom aids in distinguishing these genetic disorders and their inheritance patterns.

Related Experiment Videos

Implications:

  • This research expands the known spectrum of genetic neurological disorders.
  • Accurate classification based on clinical presentation and inheritance is crucial for diagnosis and genetic counseling.
  • Further research into the specific genetic underpinnings of these disorders is warranted.