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

Spinocerebellar ataxia type 1

H Y Zoghbi1, H T Orr

  • 1Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.

Seminars in Cell Biology
|February 1, 1995
PubMed
Summary

Spinocerebellar ataxia type 1 (SCA1) is caused by expanded CAG repeats in the ataxin-1 gene. Repeat size inversely correlates with disease onset and severity, suggesting triplet instability due to lost interruptions.

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

The clinical and genetic spectrum of spinocerebellar ataxia 14.

Neurology·2005
Same author

Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome.

Journal of medical genetics·2005
Same author

Spinocerebellar ataxia type 10 is rare in populations other than Mexicans.

Neurology·2002
Same author

Hereditary ataxia. An unfolded protein.

Lancet (London, England)·2002
Same author

Reduction of Purkinje cell pathology in SCA1 transgenic mice by p53 deletion.

Neurobiology of disease·2001
Same author

Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome.

Brain & development·2001

Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Spinocerebellar ataxia type 1 (SCA1) is an inherited neurodegenerative disorder.
  • Symptoms include ataxia, dysarthria, and bulbar dysfunction.

Purpose of the Study:

  • To identify the gene responsible for SCA1.
  • To elucidate the molecular mechanism underlying SCA1 pathogenesis.

Main Methods:

  • Positional cloning to isolate the SCA1 gene.
  • Analysis of the SCA1 transcript and encoded protein, ataxin-1.
  • CAG repeat analysis in affected individuals and controls.

Main Results:

  • The SCA1 gene was isolated and encodes ataxin-1.
  • Expanded CAG repeats (40-81) in ataxin-1 cause SCA1, while normal alleles have 6-39 repeats.
  • Repeat size correlates inversely with age of onset and disease severity.

Conclusions:

  • CAG repeat expansion in ataxin-1 is the primary cause of SCA1.
  • Loss of CAT interruptions in CAG repeats may lead to instability and disease.
  • Understanding the genetic basis of SCA1 offers insights into neurodegenerative mechanisms.

Related Experiment Videos