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

The inherited ataxias.

D A Stumpf1

  • 1Department of Neurology, School of Medicine, University of Colorado Health Sciences Center, Denver 80262.

Pediatric Neurology
|May 1, 1985
PubMed
Summary
This summary is machine-generated.

Advances in clinical, biochemical, and genetic research have improved understanding of inherited ataxias. While classification, diagnosis, and therapy are better understood, further research is needed for remaining questions and identified basic defects.

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

B- and T-cell markers in opsoclonus-myoclonus syndrome: immunophenotyping of CSF lymphocytes.

Neurology·2004
Same author

Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency.

Annals of neurology·1996
Same author

Reye syndrome: an international perspective.

Brain & development·1995
Same author

Dr Charles F. Barlow, Bronson Crothers professor of neurology.

Journal of child neurology·1992
Same author

The effect of malate on propionate mitochondrial toxicity.

Biochemical medicine and metabolic biology·1991
Same author

Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria.

The Journal of pediatrics·1991

Area of Science:

  • Neuroscience
  • Genetics
  • Clinical Medicine

Background:

  • Inherited ataxias encompass a group of progressive neurodegenerative disorders.
  • Understanding the genetic basis and clinical manifestations is crucial for effective management.

Purpose of the Study:

  • To review current knowledge on inherited ataxias.
  • To highlight advances in classification, diagnosis, and therapy.
  • To identify areas requiring further investigation.

Main Methods:

  • Review of clinical, biochemical, and genetic studies.
  • Analysis of current literature on hereditary ataxias.
  • Synthesis of findings related to classification, diagnosis, and treatment.

Main Results:

Related Experiment Videos

  • Significant progress has been made in understanding inherited ataxias.
  • Classification, diagnosis, and therapeutic strategies have improved.
  • Basic defects have been identified in several hereditary ataxia disorders.

Conclusions:

  • Current research has enhanced the understanding of inherited ataxias.
  • Despite advancements, many questions regarding these disorders persist.
  • Further research into the identified basic defects is warranted.