Related Experiment Video
Updated: Jul 14, 2026
Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
Published on: October 10, 2025
The neuropsychologic deficits of MELAS: evidence of global impairment
Sandy A Neargarder1, Michael P Murtagh, Bonnie Wong
1Psychology Department, Bridgewater State College, Bridgewater, MA 02325, USA. sneargarder@bridgew.edu
Objective:
To examine the neuropsychologic profile of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes) and relate it to neuropathologic findings.
Background:
MELAS is one of over 40 mitochondrial disorders. Symptoms include seizures, strokelike episodes, headaches, memory impairment, hemianopsia, hearing loss, short stature, diffuse limb weakness, exercise intolerance, nausea, and vomiting. Age of onset ranges from 2 to 40 years. A hallmark of MELAS is normal development until the first symptoms appear.
Method:
Because information regarding the neuropsychologic functioning of these individuals is sparse, we report findings from detailed neuropsychologic evaluations for a 13-year-old white male and a 33-year-old African-American male with MELAS.
Results:
Results revealed global patterns of deterioration in executive function, attention, language, memory, visuospatial, and motor functioning. In both patients, brain scans revealed posterior pathology in the absence of frontal pathology.
Conclusions:
We compared our findings with other documented cases and concluded that MELAS is characterized by a pattern of global deterioration. This pattern differs from that observed in other mitochondrial disorders. The absence of identifiable frontal lobe pathology despite the presence of deficits in executive functioning may be related to the distribution patterns of deficient mitochondria and neuronal projection patterns.
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