Mitochondrial DNA m.3243A>G mutation rarely causes CADASIL-like phenotype

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) are 2 monogenic cerebral small vessel diseases sharing several common clinical features including young stroke, migraine, and cognitive dysfunction. The aim of this study was to understand the role of MELAS in patients with CADASIL-like manifestations. We screened 429 unrelated patients with genetically unassigned CADASIL-like syndrome for mitochondrial DNA m.3243A>G mutation. None of them were found to have the mutation. Our finding suggests that m.3243A>G rarely causes CADASIL-like phenotype. It may be not necessary to consider MELAS as a differential diagnosis of CADASIL. Screening m.3243A>G in patients with CADASIL-like phenotype is of limited value. (C) 2020 Elsevier Inc. All rights reserved.

Automated summary

MELAS and CADASIL are two monogenic cerebral small vessel diseases, but the m.3243A>G mutation associated with MELAS is rarely found in patients with CADASIL-like manifestations. Therefore, screening for this mutation in CADASIL patients may not be very useful.