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Updated: Oct 6, 2025

Generation of Human Brain Organoids for Mitochondrial Disease Modeling
Published on: June 21, 2021
Spinal Cord Involvement in Adult Mitochondrial Diseases: A Cohort Study
Guido Primiano1,2, Paolo Mariotti1, Ida Turrini1
1Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
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.
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