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

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

4.4K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
4.4K
Neural Regulation01:37

Neural Regulation

43.0K
Digestion begins with a cephalic phase that prepares the digestive system to receive food. When our brain processes visual or olfactory information about food, it triggers impulses in the cranial nerves innervating the salivary glands and stomach to prepare for food.
43.0K
Parkinson's Disease: Overview01:15

Parkinson's Disease: Overview

1.6K
Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is...
1.6K

You might also read

Related Articles

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

Sort by
Same authorSame journal

Recurrent RNU4-2 n.64_65insT variant in ReNU syndrome identified in exome-negative cases.

Brain & development·2026
Same author

Utility of Urine-Derived Cells for Characterizing Aberrant Splicing Caused by a Novel Deep Intronic L1CAM Variant.

Annals of human genetics·2026
Same author

Functional evidence for SCN8A splice-donor variant c.4419+1 A > G causing loss of function.

Human genome variation·2026
Same author

Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder.

European journal of human genetics : EJHG·2026
Same author

Age-dependent electroclinical evolution from focal seizures to epileptic spasms in NUSAP1-related malformations of cortical development.

Epileptic disorders : international epilepsy journal with videotape·2026
Same author

Genotype-Phenotype Correlations in RPGRIP1-Associated Retinal Dystrophy in a Nationwide Japanese Cohort.

American journal of ophthalmology·2026

Related Experiment Video

Updated: Dec 31, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.5K

POLR3A variants in striatal involvement without diffuse hypomyelination.

Takuya Hiraide1, Kazuo Kubota2, Yu Kono3

  • 1Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.

Brain & Development
|January 15, 2020
PubMed
Summary

Biallelic POLR3A variants can cause leukodystrophy with distinct striatal abnormalities, expanding the known spectrum of POLR3-related disorders. These findings highlight the importance of considering striatal changes in diagnosing these genetic conditions.

Keywords:
4H leukodystrophyPOLR3-related leukodystrophyPOLR3AStriatal involvementWhole-exome sequencing

More Related Videos

Optogenetic Phase Transition of TDP-43 in Spinal Motor Neurons of Zebrafish Larvae
07:14

Optogenetic Phase Transition of TDP-43 in Spinal Motor Neurons of Zebrafish Larvae

Published on: February 25, 2022

6.4K
Gene-environment Interaction Models to Unmask Susceptibility Mechanisms in Parkinson's Disease
08:09

Gene-environment Interaction Models to Unmask Susceptibility Mechanisms in Parkinson's Disease

Published on: January 7, 2014

7.9K

Related Experiment Videos

Last Updated: Dec 31, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.5K
Optogenetic Phase Transition of TDP-43 in Spinal Motor Neurons of Zebrafish Larvae
07:14

Optogenetic Phase Transition of TDP-43 in Spinal Motor Neurons of Zebrafish Larvae

Published on: February 25, 2022

6.4K
Gene-environment Interaction Models to Unmask Susceptibility Mechanisms in Parkinson's Disease
08:09

Gene-environment Interaction Models to Unmask Susceptibility Mechanisms in Parkinson's Disease

Published on: January 7, 2014

7.9K

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • POLR3A variants cause POLR3-related (4H) leukodystrophy, a disorder typically presenting with neurologic dysfunction and white matter abnormalities on MRI.
  • Recent studies identified POLR3A variants in patients without diffuse hypomyelination, suggesting a broader phenotypic spectrum.
  • The c.1771-6C>G variant was previously linked to striatal and red nucleus involvement without white matter changes.

Observation:

  • This study reports on three patients from two families with compound heterozygous POLR3A variants, including the c.1771-6C>G splice site variant.
  • Patients exhibited neuropsychiatric regression, severe intellectual disability, dystonia, and oligodontia.
  • Brain MRI revealed bilateral symmetric striatal atrophy and abnormal signals in all three individuals, notably without diffuse white matter abnormalities.

Findings:

  • The identified compound heterozygous variants, c.1771-6C>G with c.791C>T or c.2671C>T, lead to aberrant mRNA splicing of POLR3A.
  • Striatal abnormalities on MRI are a significant finding in these cases, differentiating them from classic POLR3-related leukodystrophy presentations.
  • The presence of the c.1771-6C>G variant is associated with these specific neuroimaging findings.

Implications:

  • Striatal abnormalities represent a key MRI finding in POLR3A-related disorders, particularly those involving the c.1771-6C>G variant.
  • These findings expand the recognized clinical and radiological spectrum of POLR3A-related disorders.
  • This research aids in refining diagnostic criteria and understanding the diverse manifestations of POLR3A genetic disorders.