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,...
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| Published in | Neurobiology of aging Vol. 97; pp. 145.e5 - 145.e6 |
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| Main Authors | , , , |
| Format | Journal Article |
| Language | English |
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Elsevier Inc
01.01.2021
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| Abstract | 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. |
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| AbstractList | 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. |
| Author | Liao, Nai-Yi Lee, Yi-Chung Liao, Yi-Chu Liao, Kwong-Kum |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/32950272$$D View this record in MEDLINE/PubMed |
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| Keywords | m.3243 A>G Monogenic cerebral small vessel disease CADASIL MELAS |
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| Title | Mitochondrial DNA m.3243A>G mutation rarely causes CADASIL-like phenotype |
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