Abstract
The central nervous system is metabolically very demanding and consequently vulnerable to defects of the mitochondrial respiratory chain. While the clinical manifestations and the corresponding radiological findings of the brain involvement in mitochondrial diseases (e.g., stroke-like episodes, signal changes of the basal ganglia, cerebral and cerebellar atrophy) are well known, at present there are few data on the spinal-cord abnormalities in these pathologies, in particular in adult subjects. In this study, we present a cross-sectional cohort study on the prevalence and characterization of spinal-cord involvement in adult patients with genetically defined mitochondrial diseases.
Highlights
Mitochondrial Diseases: A CohortMitochondrial diseases (MDs) are a common group of genetic disorders characterized by a primary defect in mitochondrial oxidative phosphorylation, which is the main source of cellular ATP, and are under the dual genetic control of mitochondrial DNAand nuclear DNA working in concert [1]
We included all of the consecutive adult mitochondrial patients (18 years and above) who came to our hospital, and performed a brain and spinal-cord MRI
Mutations in DARS2 gene; 2 mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) harbored recessive TYMP mutations; 3 patients had other mitochondrial DNA (mtDNA) point mutations including m.8356T > G, m.8356T > C and m.13042G > A
Summary
Mitochondrial Diseases: A CohortMitochondrial diseases (MDs) are a common group of genetic disorders characterized by a primary defect in mitochondrial oxidative phosphorylation, which is the main source of cellular ATP, and are under the dual genetic control of mitochondrial DNA (mtDNA)and nuclear DNA (nDNA) working in concert [1]. Mitochondrial diseases (MDs) are a common group of genetic disorders characterized by a primary defect in mitochondrial oxidative phosphorylation, which is the main source of cellular ATP, and are under the dual genetic control of mitochondrial DNA (mtDNA). While the clinical manifestations and the corresponding radiological findings of the brain involvement of mitochondrial diseases (e.g., stroke-like episodes, signal changes of the basal ganglia, cerebral and cerebellar atrophy) are well known [3,4], at present there are few data on the spinal-cord abnormalities in these pathologies, especially in adult subjects [5,6]. A detailed evaluation of this clinical aspect has only been performed for pediatric or juvenile patients in small case studies with a single phenotype or in retrospective studies [7,8,9].
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