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 Concept Videos

Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Pedigree Analysis01:35

Pedigree Analysis

Overview
Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Early detection of antiseizure medication inefficacy using an implantable continuous EEG system and a personalized model: a case study.

Epilepsy & behavior reports·2025
Same author

Erratum: Addressing the challenges of conducting community-engaged research during COVID-19: Rapid development and evaluation of a COVID-19 Research Patient and Community Advisory Board (PCAB) - CORRIGENDUM.

Journal of clinical and translational science·2025
Same author

IMPROVING ACCESS TO CARE AND CONSENT FOR TRANSGENDER AND GENDER DIVERSE YOUTH IN THE UNITED STATES.

Georgian medical news·2024
Same author

Prevention Better Than Cure.

Texas medical journal (Austin, Tex.)·2023
Same author

Science and beyond science in the reporting of quality of facility-based maternal and newborn care during the COVID-19 pandemic.

The Lancet regional health. Europe·2022
Same author

Prospects for beyond the Standard Model physics searches at the Deep Underground Neutrino Experiment: DUNE Collaboration.

The European physical journal. C, Particles and fields·2021

Related Experiment Video

Updated: Jul 9, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.

M A Leehey1, E Berry-Kravis, C G Goetz

  • 1Department of Neurology, University of Colorado at Denver and Health Sciences Center, Denver, CO 80262, USA. maureen.leehey@uchsc.edu

Neurology
|December 7, 2007
PubMed
Summary

CGG repeat size in FMR1 premutation carriers correlates with motor dysfunction severity. This association is strongest in men for tremor, ataxia, and parkinsonism, and in women for ataxia.

More Related Videos

Measuring RAN Peptide Toxicity in C. elegans
10:49

Measuring RAN Peptide Toxicity in C. elegans

Published on: April 30, 2020

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells
08:53

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells

Published on: May 16, 2017

Related Experiment Videos

Last Updated: Jul 9, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

Measuring RAN Peptide Toxicity in C. elegans
10:49

Measuring RAN Peptide Toxicity in C. elegans

Published on: April 30, 2020

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells
08:53

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells

Published on: May 16, 2017

Area of Science:

  • Neurogenetics
  • Neurology
  • Geriatrics

Background:

  • Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder affecting FMR1 premutation carriers.
  • Core motor symptoms include tremor, ataxia, and parkinsonism.
  • FXTAS is underrecognized, particularly in aging populations.

Purpose of the Study:

  • To determine if CGG repeat length in the FMR1 gene correlates with the severity and type of motor dysfunction in premutation carriers.
  • To investigate this correlation separately in men and women.

Main Methods:

  • Structured videotaping and blinded motor assessments by movement disorder neurologists.
  • CGG repeat length analysis, including X-activation ratio for women.
  • Comparison of carriers (men and women) with age-matched noncarriers.

Main Results:

  • Male carriers showed significantly worse motor scores (tremor, ataxia) than male noncarriers.
  • Increasing CGG repeat length correlated with greater motor impairment in men.
  • In women, increasing CGG repeat length correlated with greater ataxia when considering the X-activation ratio.

Conclusions:

  • CGG repeat size is significantly associated with motor impairment in FMR1 premutation carriers.
  • The association is most pronounced in men, affecting tremor, ataxia, and parkinsonism.
  • A significant correlation between premutation status and ataxia was observed in women, a novel finding.