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Movement disorders in mitochondrial disease: a clinicopathological correlation
Irene H Flønes1,2, Charalampos Tzoulis1,2
1Department of Clinical Medicine, University of Bergen.
Current Opinion in Neurology
|May 12, 2018
Summary
Movement disorders are common in mitochondrial diseases, often showing unexpected clinical-anatomical links. Further research is needed to understand these paradoxical findings and improve patient care.
Area of Science:
- Neurology
- Mitochondrial Biology
- Movement Disorders
Background:
- Movement disorders frequently manifest in mitochondrial diseases due to neuronal vulnerability to energy failure.
- Clinicopathological correlations in these disorders can be atypical, challenging established neurophysiological understanding.
- Substantia nigra degeneration may not present with classic parkinsonism, suggesting compensatory mechanisms in other motor circuits.
Purpose of the Study:
- To provide an updated review of movement disorders linked to mitochondrial disease.
- To highlight recent discoveries in clinicopathological correlations.
- To explore the underlying mechanisms of phenotypic expression.
Main Methods:
- Literature review focusing on movement disorders in mitochondrial diseases.
- Analysis of clinicopathological correlations and neurophysiological data.
- Synthesis of recent findings on paradoxical presentations.
Main Results:
- Movement disorders are a common feature of mitochondrial diseases.
- Paradoxical clinical-anatomical correlations are observed, particularly in parkinsonism.
- Compensation by cerebellar and thalamic circuits may explain atypical presentations.
Conclusions:
- Movement disorders commonly accompany mitochondrial disease with paradoxical correlations.
- Further research is essential to elucidate the mechanisms driving these phenotypes.
- Understanding these mechanisms will advance the broader understanding of movement disorder pathogenesis.
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