Related Experiment Video

Updated: Feb 15, 2026

Evaluation of Bioenergetic Function in Cerebral Vascular Endothelial Cells
06:15

Evaluation of Bioenergetic Function in Cerebral Vascular Endothelial Cells

Published on: November 19, 2016

9.7K

Cerebral Manifestations of Mitochondrial Disorders

Josef Finsterer1, Elmano Henrique Torres de Carvalho2

  • 11Krankenanstalt Rudolfstiftung,Vienna,Austria.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|February 3, 2018
PubMed

Insights

Mitochondrial disorders (MIDs) frequently affect the brain, causing diverse neurological symptoms and imaging findings. Early recognition and management of these cerebral manifestations are crucial for patient outcomes.

Area of Science:

  • Neurology
  • Genetics
  • Metabolic Disorders

Background:

  • Mitochondrial disorders (MIDs) are a group of genetic diseases affecting cellular energy production.
  • The brain is the second most commonly affected organ in MIDs, after muscle.
  • Cerebral manifestations can occur with or without detectable lesions on imaging or functional studies.

Purpose of the Study:

  • To review and synthesize current knowledge on the cerebral manifestations of MIDs.
  • To highlight the variability and common neurological symptoms associated with MIDs.
  • To discuss diagnostic and therapeutic approaches for brain involvement in MIDs.

Main Methods:

  • Comprehensive literature review of previous and recent findings on MIDs and their cerebral impact.
  • Analysis of reported clinical presentations, neuroimaging findings, and functional studies.
  • Synthesis of information on therapeutic strategies, including symptomatic treatment and supportive care.

Main Results:

  • Cerebral manifestations of MIDs are highly variable, including stroke-like episodes, epilepsy, ataxia, movement disorders, and psychiatric abnormalities.
  • Common neuroimaging findings include white and gray matter lesions, atrophy, and basal ganglia calcification.
  • Functional studies like FDG-PET may reveal hypometabolism in affected brain regions.

Conclusions:

  • Cerebral involvement significantly impacts the prognosis of patients with MIDs.
  • Prompt recognition and appropriate management of neurological symptoms are essential.
  • Symptomatic treatment, supplemented with vitamins, cofactors, and antioxidants, forms the current therapeutic approach.
Keywords:
braincerebral MRImitochondrialoxidative phosphorylationrespiratory chain

More Related Videos

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing07:24

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

2.0K
Mitochondrial Preparation from Microglia for Glycan Analysis06:40

Mitochondrial Preparation from Microglia for Glycan Analysis

Published on: May 30, 2025

852

Related Concept Videos

Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
9.3K
Comparing Mitochondrial, Chloroplast, and Prokaryotic Genomes02:16

Comparing Mitochondrial, Chloroplast, and Prokaryotic Genomes

The present-day mitochondrial and chloroplast genomes have retained some of the characteristics of their ancestral prokaryotes and also have acquired new attributes during their evolution within eukaryotic cells. Like prokaryotic genomes, mitochondrial and chloroplast genomes neither bind with histone-like proteins nor show complex packaging into chromosome-like structures, as observed in eukaryotes. Unlike mitotic cell divisions observed in eukaryotic cells, mitochondria and chloroplasts...
17.1K
Intrinsically Disordered Proteins02:18

Intrinsically Disordered Proteins

Intrinsically disordered proteins are a group of proteins that do not fold into specific three-dimensional structures. Their structural flexibility allows them to complement ordered proteins to perform functions that are inaccessible to rigid structures. They are more common in eukaryotes than prokaryotes and may either be exclusively intrinsically disordered or hybrid proteins, consisting of a mix of ordered and disordered regions. The absence of a rigid structure in these proteins can be...
19.6K
Export of Mitochondrial and Chloroplast Genes02:19

Export of Mitochondrial and Chloroplast Genes

A eukaryotic cell can have up to three different types of genetic systems: nuclear, mitochondrial, and chloroplast. During evolution, organelles have exported many genes to the nucleus; this transfer is still ongoing in some plant species. Approximately 18% of the Arabidopsis thaliana nuclear genome is thought to be derived from the chloroplast’s cyanobacterial ancestor, and around 75% of the yeast genome derived from the mitochondria’s bacterial ancestor. This export has occurred...
4.2K
The Inner Mitochondrial Membrane01:28

The Inner Mitochondrial Membrane

The inner mitochondrial membrane is the primary site of ATP synthesis. The inner membrane domain that forms a smooth layer adjacent to the outer membrane is called the inner boundary membrane. This domain contains membrane transporters that drive metabolites in and out of the mitochondria.  In contrast, the inner membrane network that invaginates into the matrix space is called the cristae membrane. This domain accounts for principle mitochondrial function as it accommodates the protein...
4.8K
Acute Pancreatitis II: Clinical Manifestations and Management01:30

Acute Pancreatitis II: Clinical Manifestations and Management

Acute pancreatitis presents a complex medical emergency characterized by rapid onset inflammation of the pancreas, demanding timely diagnosis and management to prevent complications. The condition primarily manifests through severe upper abdominal pain that often radiates to the back. This pain intensifies following the consumption of fatty foods. Accompanying symptoms such as nausea, vomiting, abdominal distention, fever, dyspnea, cyanosis, and jaundice can vary in intensity but significantly...
898