Cognitive impairment, clinical severity and MRI changes in MELAS syndrome

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.