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

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Parkinson Disease ll: Pathophysiology01:24

Parkinson Disease ll: Pathophysiology

Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...
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,...
Hepatic Encephalopathy01:29

Hepatic Encephalopathy

DefinitionHepatic encephalopathy is a reversible neurologic syndrome that results from advanced liver dysfunction or portosystemic shunting. It leads to disturbances in cognition, behavior, and motor function due to the brain’s exposure to gut-derived toxins that the liver fails to detoxify.EtiologyThis condition develops either in the setting of acute fulminant hepatitis or progressively during chronic liver disease, such as cirrhosis and portal hypertension. Portosystemic shunting—including...
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...
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,...

You might also read

Related Articles

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

Sort by
Same author

Reducing Body Myopathy in Female Patients With <i>FHL1</i> Variants Showing Rapid and Severe Evolution Mimicking Inflammatory Myopathy: A Case Series.

Neurology. Genetics·2026
Same author

Screening cognitive and academic problems in Duchenne Muscular Dystrophy: Validity and reliability of the Kempenhaeghe Learning Questionnaire.

Journal of neuromuscular diseases·2026
Same author

Understanding the neurobehavioural impact of Duchenne muscular dystrophy: A multicentre European study.

European child & adolescent psychiatry·2026
Same author

High risk of hypoxemic COVID-19 pneumonia in myasthenia gravis patients with type I IFN autoantibodies.

medRxiv : the preprint server for health sciences·2026
Same author

Acute Neurological Complications After Transplantation in Methylmalonic Acidemia: A 35-Patient French Cohort.

Journal of inherited metabolic disease·2026
Same author

Laminopathies: natural history and risk prediction of heart failure.

European heart journal·2026

Related Experiment Video

Updated: Jun 17, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.

Christine Barnerias1, Jean-Marie Saudubray, Guy Touati

  • 1Neuropaediatric Unit, Necker Hospital, AP-HP, Paris, France.

Developmental Medicine and Child Neurology
|December 17, 2009
PubMed
Summary
This summary is machine-generated.

Pyruvate dehydrogenase complex (PDHc) deficiency presents with distinct neurological phenotypes, including neonatal encephalopathy and Leigh syndrome. Genetic mutations in PDHA1 and PDHX genes influence disease presentation and outcomes.

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Characterizing Histone Post-translational Modification Alterations in Yeast Neurodegenerative Proteinopathy Models
08:33

Characterizing Histone Post-translational Modification Alterations in Yeast Neurodegenerative Proteinopathy Models

Published on: March 24, 2019

Related Experiment Videos

Last Updated: Jun 17, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Characterizing Histone Post-translational Modification Alterations in Yeast Neurodegenerative Proteinopathy Models
08:33

Characterizing Histone Post-translational Modification Alterations in Yeast Neurodegenerative Proteinopathy Models

Published on: March 24, 2019

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Pyruvate dehydrogenase complex (PDHc) deficiency is a rare metabolic disorder.
  • It affects energy production in the brain, leading to neurological dysfunction.

Purpose of the Study:

  • To characterize the clinical and genetic spectrum of PDHc deficiency.
  • To identify genotype-phenotype correlations.

Main Methods:

  • Analysis of clinical and imaging data from 22 patients with confirmed PDHc deficiency over 15 years.
  • Enzymological and genetic testing, including mutation analysis of PDHA1 and PDHX genes.

Main Results:

  • Four distinct clinical groups were identified: neonatal encephalopathy, non-progressive infantile encephalopathy, Leigh syndrome, and relapsing ataxia.
  • Seventeen mutations in PDHA1 and five in PDHX were identified.
  • PDHX mutations correlated with non-progressive encephalopathy and better survival.

Conclusions:

  • Two main patterns of neurological involvement were observed: prenatal brain malformations and acute infantile energy failure.
  • The ketogenic diet showed potential benefit for paroxysmal dysfunction, suggesting an energy failure mechanism.