Objective: To examine clinical severity, cognitive impairment, and MRI changes in patients with MELAS syndrome.
Methods: Cognitive-mnestic functions, brain MRI (lesion load, cella media index) and clinical severity of ten patients with MELAS syndrome were examined. All patients carried the m.3243A>G mutation.
Results: The detailed neuropsychological assessment revealed cognitive deficits in attention, executive function, visuoperception, and -construction. There were significant correlations between these cognitive changes, lesion load in MRI, disturbances in everyday life (clinical scale), and high scores in NMDAS.
Conclusion: Patients with MELAS syndrome showed no global neuropsychological deficit, but rather distinct cognitive deficits.
Keywords: Cognitive impairment; Dementia; MELAS; MRI; Mitochondrial disorders.
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