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

Hereditary ataxias.

V G Evidente1, K A Gwinn-Hardy, J N Caviness

  • 1Department of Neurology, Mayo Clinic Scottsdale, Ariz., USA.

Mayo Clinic Proceedings
|May 12, 2000
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

GBA mutations in Parkinson disease: earlier death but similar neuropathological features.

European journal of neurology·2017
Same author

Differential spectral quantitative electroencephalography patterns between control and Parkinson's disease cohorts.

European journal of neurology·2015
Same author

A phase 2 randomized trial of ELND005, scyllo-inositol, in mild to moderate Alzheimer disease.

Neurology·2011
Same author

Quantitative EEG as a predictive biomarker for Parkinson disease dementia.

Neurology·2011
Same author

Medication dose reductions after pallidal versus subthalamic stimulation in patients with Parkinson's disease.

Acta neurologica Scandinavica·2010
Same author

TDP-43 pathology occurs infrequently in multiple system atrophy.

Neuropathology and applied neurobiology·2010
Same journal

37-Year-Old Woman With Jaundice.

Mayo Clinic proceedings·2026
Same journal

34-Year-Old Woman With An Unidentified Overdose.

Mayo Clinic proceedings·2026
Same journal

Use of Bronchoscopic Cryobiopsy in Evaluating Interstitial Lung Disease: Radiologic Predictors of Diagnostic Yield and Safety.

Mayo Clinic proceedings·2026
Same journal

Advancing Pulmonary Fibrosis Care: Integrating Genomic Insights Into Clinical Practice.

Mayo Clinic proceedings·2026
Same journal

RAAS Inhibition in the ICU: Stop, Continue, or Restart?

Mayo Clinic proceedings·2026
Same journal

Chronic Kidney Disease-In the Limelight, July 2026.

Mayo Clinic proceedings·2026
See all related articles

Hereditary ataxias stem from genetic mutations, often trinucleotide repeat expansions, causing either loss or gain of function. Diagnosis relies on molecular studies, with limited treatments available for most types.

Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Hereditary ataxias encompass a diverse group of genetic disorders affecting coordination and balance.
  • These conditions are primarily categorized by inheritance patterns: autosomal recessive, autosomal dominant, and X-linked.
  • Molecular mechanisms frequently involve trinucleotide repeat expansions, impacting protein function.

Purpose of the Study:

  • To review the genetic and molecular basis of hereditary ataxias.
  • To highlight diagnostic approaches and the role of genetic counseling.
  • To summarize current therapeutic limitations and exceptions.

Main Methods:

  • Review of existing literature on hereditary ataxia genetics and molecular pathology.
  • Classification of ataxias based on inheritance patterns and molecular mechanisms.

Related Experiment Videos

  • Analysis of diagnostic methods, emphasizing genotypic and molecular studies.

    • Main Results:

    • Trinucleotide repeat expansions are a common molecular cause, leading to loss-of-function (e.g., Friedreich ataxia) or gain-of-function (e.g., polyglutamine inclusions in dominant ataxias).
    • Channelopathies are implicated, particularly in episodic ataxias.
    • Definitive diagnosis typically requires molecular or genotypic analysis, surpassing phenotypic assessment alone.

    Conclusions:

    • Genetic counseling is crucial for affected individuals and families.
    • Effective treatments remain scarce for most hereditary ataxias.
    • Exceptions include ataxia with isolated vitamin E deficiency and episodic ataxias, which have available treatments.