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

Multiple Sclerosis l: Introduction01:19

Multiple Sclerosis l: Introduction

Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters01:16

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
Parkinson's Disease: Overview01:15

Parkinson's Disease: Overview

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 to...

You might also read

Related Articles

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

Sort by
Same author

Long-term treatment outcomes of immune checkpoint inhibitor-related neuropathies: a French multicenter cohort study.

Scientific reports·2026
Same author

Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.

European journal of human genetics : EJHG·2026
Same author

Development and Validation of the 3PDQ: A Self-Reported Questionnaire for Diagnosing Primary Pain in Parkinson's Disease.

Movement disorders : official journal of the Movement Disorder Society·2026
Same author

Distinct Brain Drivers and Shared Cerebello-Cortical Input in ADCY5 and SGCE Hyperkinetic Movements.

Movement disorders : official journal of the Movement Disorder Society·2026
Same author

Characteristics of Patients with Myasthenia Gravis in the French Rare Disease Registry.

European journal of neurology·2026
Same author

Is being asymmetric a bad thing? Insights from a longitudinal observational study on STN-DBS Parkinson's disease.

Parkinsonism & related disorders·2026

Related Experiment Video

Updated: Jun 8, 2026

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis
09:41

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis

Published on: July 19, 2019

POLG1 variations presenting as multiple sclerosis.

Andoni Echaniz-Laguna1, Maïté Chassagne, Jérôme de Sèze

  • 1Département de Neurologie, Hôpital Civil, 67091 Strasbourg, France. andoni.echaniz-laguna@chru-strasbourg.fr

Archives of Neurology
|September 15, 2010
PubMed
Summary

Novel POLG1 gene variations can mimic multiple sclerosis symptoms. This discovery highlights the need for awareness of POLG1-related disorders for accurate diagnosis and management.

More Related Videos

An Ex vivo Model of an Oligodendrocyte-directed T-Cell Attack in Acute Brain Slices
06:36

An Ex vivo Model of an Oligodendrocyte-directed T-Cell Attack in Acute Brain Slices

Published on: February 5, 2015

Related Experiment Videos

Last Updated: Jun 8, 2026

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis
09:41

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis

Published on: July 19, 2019

An Ex vivo Model of an Oligodendrocyte-directed T-Cell Attack in Acute Brain Slices
06:36

An Ex vivo Model of an Oligodendrocyte-directed T-Cell Attack in Acute Brain Slices

Published on: February 5, 2015

Area of Science:

  • Neurology
  • Genetics
  • Mitochondrial Diseases

Background:

  • Mitochondrial DNA polymerase subunit gamma 1 (POLG1) gene mutations are linked to various neurological disorders.
  • Some POLG1-related conditions can present with symptoms overlapping those of multiple sclerosis (MS).

Observation:

  • Two unrelated patients presented with optic neuritis, white matter lesions, and cerebrospinal fluid oligoclonal bands, mimicking MS.
  • Both patients later developed progressive neurological deficits including ophthalmoplegia, myopathy, ataxia, and cognitive impairment.

Findings:

  • Muscle biopsies revealed ragged red fibers and multiple mitochondrial DNA deletions.
  • Genetic analysis identified compound heterozygous variations in the POLG1 gene, with three being novel.

Implications:

  • POLG1-related disorders can present as a multiple sclerosis-like illness, necessitating broader diagnostic considerations.
  • Early identification of POLG1 variations is crucial for appropriate patient management, treatment strategies, and genetic counseling.