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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| Veröffentlicht in: | Neurobiology of aging 2021-01, Vol.97, p.145.e5-145.e6 |
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| container_title | Neurobiology of aging |
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| creator | Liao, Nai-Yi Liao, Kwong-Kum Liao, Yi-Chu Lee, Yi-Chung |
| description | 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. |
| doi_str_mv | 10.1016/j.neurobiolaging.2020.08.016 |
| format | Article |
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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.</description><identifier>ISSN: 0197-4580</identifier><identifier>EISSN: 1558-1497</identifier><identifier>DOI: 10.1016/j.neurobiolaging.2020.08.016</identifier><identifier>PMID: 32950272</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>CADASIL ; m.3243 A>G ; MELAS ; Monogenic cerebral small vessel disease</subject><ispartof>Neurobiology of aging, 2021-01, Vol.97, p.145.e5-145.e6</ispartof><rights>2020 Elsevier Inc.</rights><rights>Copyright © 2020 Elsevier Inc. 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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.</description><subject>CADASIL</subject><subject>m.3243 A>G</subject><subject>MELAS</subject><subject>Monogenic cerebral small vessel disease</subject><issn>0197-4580</issn><issn>1558-1497</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><recordid>eNqNkEtP5DAQhC0EguHxF1AOHLgk205sx5EQUjQ8dqQBDsDZcpwOeEjiwU6Q5t8TNLDS3jj1ob7q6i5CzigkFKj4s0p6HL2rrGv1i-1fkhRSSEAmk7hDZpRzGVNW5LtkBrTIY8YlHJDDEFYAkLNc7JODLC04pHk6I4s7Ozjz6vraW91GV_dl1CVZyrLy8jbqxkEP1vWR1x7bTWT0GDBE8_KqfFws49a-YbR-xd4NmzUek71GtwFPvucReb65fpr_jZcPt4t5uYxNJsUQZ7wGjg1MJwpkFeSaS1bpSqDRvKKybgQFaWgtWSapEVrTmjHArBKNEQ3Pjsj5du_au_cRw6A6Gwy2re7RjUGljDEBsijohF5sUeNdCB4btfa2036jKKivMtVK_V-m-ipTgVSTONlPv5PGqsP6n_mnvQm42QI4_fth0atgLPYGa-vRDKp29ndJn4sKjPo</recordid><startdate>202101</startdate><enddate>202101</enddate><creator>Liao, Nai-Yi</creator><creator>Liao, Kwong-Kum</creator><creator>Liao, Yi-Chu</creator><creator>Lee, Yi-Chung</creator><general>Elsevier Inc</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0003-0102-164X</orcidid></search><sort><creationdate>202101</creationdate><title>Mitochondrial DNA m.3243A>G mutation rarely causes CADASIL-like phenotype</title><author>Liao, Nai-Yi ; Liao, Kwong-Kum ; Liao, Yi-Chu ; Lee, Yi-Chung</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c386t-35d05ef01496e4b07a584bab6eca5b18df6108c1d84381c6aa1d440e3b6fc6f53</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>CADASIL</topic><topic>m.3243 A>G</topic><topic>MELAS</topic><topic>Monogenic cerebral small vessel disease</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Liao, Nai-Yi</creatorcontrib><creatorcontrib>Liao, Kwong-Kum</creatorcontrib><creatorcontrib>Liao, Yi-Chu</creatorcontrib><creatorcontrib>Lee, Yi-Chung</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Neurobiology of aging</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Liao, Nai-Yi</au><au>Liao, Kwong-Kum</au><au>Liao, Yi-Chu</au><au>Lee, Yi-Chung</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mitochondrial DNA m.3243A>G mutation rarely causes CADASIL-like phenotype</atitle><jtitle>Neurobiology of aging</jtitle><addtitle>Neurobiol Aging</addtitle><date>2021-01</date><risdate>2021</risdate><volume>97</volume><spage>145.e5</spage><epage>145.e6</epage><pages>145.e5-145.e6</pages><issn>0197-4580</issn><eissn>1558-1497</eissn><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.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>32950272</pmid><doi>10.1016/j.neurobiolaging.2020.08.016</doi><orcidid>https://orcid.org/0000-0003-0102-164X</orcidid></addata></record> |
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| subjects | CADASIL m.3243 A>G MELAS Monogenic cerebral small vessel disease |
| title | Mitochondrial DNA m.3243A>G mutation rarely causes CADASIL-like phenotype |
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