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

Familial periodic ataxia.

J R Donat, R Auger

    Archives of Neurology
    |September 1, 1979
    PubMed
    Summary

    Familial periodic ataxia patients experience recurrent vertigo or cerebellar incoordination. Acetazolamide relieved these attacks, suggesting a medullary disturbance.

    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

    [Inferior myocardial infarction with extension to the right ventricle due to a huge clot in the ascending aorta that invaded the right coronary artery - A case report].

    Annales de cardiologie et d'angeiologie·2025
    Same author

    Efficacy and safety of intense pulsed light delivered by the C.STIM® for treatment of Meibomian gland dysfunction.

    Journal francais d'ophtalmologie·2023
    Same author

    "En face‿ swept-source OCT imaging of a late capsular block syndrome.

    Journal francais d'ophtalmologie·2022
    Same author

    Collapsed Soemmering's ring.

    Journal francais d'ophtalmologie·2022
    Same author

    "Top of the basilar artery" syndrome and thalamic aphasia: A case report.

    Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association·2015
    Same author

    Palmitoylation of the P2X7 receptor, an ATP-gated channel, controls its expression and association with lipid rafts.

    FASEB journal : official publication of the Federation of American Societies for Experimental Biology·2008

    Area of Science:

    • Neurology
    • Genetics
    • Ophthalmology

    Background:

    • Familial periodic ataxia is a rare neurological disorder.
    • Previous cases have presented with disparate symptoms, complicating diagnosis.

    Observation:

    • Two family members presented with recurrent episodes of vertigo and cerebellar incoordination.
    • The presence of both symptoms in affected individuals offers a unifying explanation for varied clinical presentations.
    • Downbeating nystagmus was observed, indicating a potential medullary origin.

    Findings:

    • The combined symptoms of vertigo and cerebellar incoordination in affected family members.
    • Downbeating nystagmus suggests a medullary disturbance.
    • Acetazolamide effectively relieved the recurrent attacks, consistent with previous findings.

    Implications:

    • This study may help reconcile disparate features of previously reported familial periodic ataxia cases.
    • The findings support a potential medullary disturbance in this form of ataxia.
    • Acetazolamide's efficacy highlights its therapeutic potential for managing these attacks.

    Related Experiment Videos