Related Experiment Video

Updated: Jun 19, 2026

Treating SCA1 Mice with Water-Soluble Compounds to Non-Specifically Boost Mitochondrial Function
11:47

Treating SCA1 Mice with Water-Soluble Compounds to Non-Specifically Boost Mitochondrial Function

Published on: January 22, 2017

Mitochondrial ataxias

Josef Finsterer1

  • 1Krankenanstalt Rudolfstiftung, Vienna, Austria, Europe.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|October 17, 2009
PubMed

Insights

Mitochondrial disorders (MIDs) frequently affect the central nervous system, often presenting as ataxia. Recognizing these MIDs is crucial for accurate diagnosis and management alongside classical heredoataxias.

Area of Science:

  • Neurology
  • Genetics
  • Metabolic Disorders

Background:

  • Mitochondrial disorders (MIDs) are increasingly recognized as a significant cause of neurological dysfunction.
  • The central nervous system is the second most commonly affected organ system in MIDs.
  • Ataxia is a prevalent clinical manifestation of MIDs, sometimes being the dominant symptom.

Purpose of the Study:

  • To highlight the importance of considering MIDs in the differential diagnosis of heredoataxias.
  • To review MIDs associated with ataxia, categorized by genetic origin (mitochondrial DNA vs. nuclear DNA).
  • To emphasize the need for distinguishing syndromic and non-syndromic MIDs with ataxia from classical heredoataxias for appropriate treatment.

Main Methods:

  • Literature review and synthesis of existing data on MIDs and ataxia.
  • Classification of MIDs associated with ataxia based on genetic mutations (mtDNA and nDNA).
  • Analysis of the frequency and clinical presentation of ataxia in various MID syndromes.

Main Results:

  • Numerous MIDs, both syndromic and non-syndromic, are associated with ataxia.
  • Specific mtDNA mutations (MERRF, NARP, MILS, KSS) and nDNA mutations (LS, SANDO, SCAE, etc.) frequently present with ataxia.
  • Non-syndromic MIDs are most frequently associated with ataxia.

Conclusions:

  • Ataxia is a key neurological symptom that warrants investigation for underlying MIDs.
  • Accurate classification of MIDs with ataxia is essential for effective symptomatic and supportive care.
  • Inclusion of MIDs in heredoataxia classifications or as differentials is clinically relevant.

More Related Videos

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry06:53

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry

Published on: November 23, 2011

Analyzing Mitochondrial Transport and Morphology in Human Induced Pluripotent Stem Cell-Derived Neurons in Hereditary Spastic Paraplegia07:32

Analyzing Mitochondrial Transport and Morphology in Human Induced Pluripotent Stem Cell-Derived Neurons in Hereditary Spastic Paraplegia

Published on: February 9, 2020

Related Concept Videos

ATP Synthase: Mechanism01:48

ATP Synthase: Mechanism

In animals, the mitochondrial F1F0 ATP synthase is the key protein that synthesizes ATP molecules through a complex catalytic mechanism. While the nuclear genome encodes the majority of ATP synthase subunits, the mitochondrial genome encodes some of the enzyme's most critical components. The formation of this multi-subunit enzyme is a complex multi-step process regulated at the level of transcription, translation, and assembly. Defects in one or more of these steps can result in decreased ATP...
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...
Mitochondrial Precursor Proteins01:39

Mitochondrial Precursor Proteins

Mitochondrial precursors are partially unfolded or loosely folded polypeptide chains. Newly synthesized precursors are inhibited from spontaneously folding into their native conformation by the cytosolic chaperones, heat shock proteins 70 (Hsp70), and mitochondrial import stimulation factors (MSFs). Precursors bound to MSFs are guided to the TOM70-TOM37 receptors, while precursors bound to Hsp70  chaperones are targetted to TOM20-TOM22 receptor complexes.
Most of the mitochondrial precursors...
Mitochondrial Membranes01:45

Mitochondrial Membranes

A single mitochondrion is a bean-shaped organelle enclosed by a double-membrane system. The outer membrane of mitochondria is smooth and contains many porins - the integral membrane transporters. Porins enable free diffusion of ions and small uncharged molecules through the outer mitochondrial membrane but limit the transport of molecules larger than 5000 Daltons. Further, the outer mitochondrial membrane forms a unique structure called membrane contact sites with other subcellular organelles,...
Mitochondrial Membranes01:45

Mitochondrial Membranes

A single mitochondrion is a bean-shaped organelle enclosed by a double-membrane system. The outer membrane of mitochondria is smooth and contains many porins - the integral membrane transporters. Porins enable free diffusion of ions and small uncharged molecules through the outer mitochondrial membrane but limit the transport of molecules larger than 5000 Daltons. Further, the outer mitochondrial membrane forms a unique structure called membrane contact sites with other subcellular organelles,...
Mitochondrial Protein Sorting01:39

Mitochondrial Protein Sorting

Mitochondria are double-membrane organelles of the eukaryotes involved in cellular metabolism, signaling, ATP synthesis, and programmed cell death.  Each of these processes requires specific proteins and enzymes that must be correctly sorted to the right mitochondrial subcompartment for the proper functioning of the organelle.
Most of these mitochondrial proteins are encoded by the nucleus and imported to the mitochondria as unfolded or loosely folded precursors. Mitochondrial precursors...