{"doi":"10.3390/genes12101643","title":"Mitochondrial Strokes: Diagnostic Challenges and Chameleons","abstract":"<jats:p>Mitochondrial stroke-like episodes (SLEs) are a hallmark of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). They should be suspected in anyone with an acute/subacute onset of focal neurological symptoms at any age and are usually driven by seizures. Suggestive features of an underlying mitochondrial pathology include evolving MRI lesions, often originating within the posterior brain regions, the presence of multisystemic involvement, including diabetes, deafness, or cardiomyopathy, and a positive family history. The diagnosis of MELAS has important implications for those affected and their relatives, given it enables early initiation of appropriate treatment and genetic counselling. However, the diagnosis is frequently challenging, particularly during the acute phase of an event. We describe four cases of mitochondrial strokes to highlight the considerable overlap that exists with other neurological disorders, including viral and autoimmune encephalitis, ischemic stroke, and central nervous system (CNS) vasculitis, and discuss the clinical, laboratory, and imaging features that can help distinguish MELAS from these differential diagnoses.</jats:p>","journal":"Genes","year":2021,"id":613793,"datarank":0.40620753016533157,"base_score":2.70805020110221,"endowment":2.70805020110221,"self_citation_contribution":0.40620753016533157,"citation_network_contribution":0.0,"self_endowment_contribution":0.40620753016533157,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":14,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":902187,"name":"Enrico Bugiardini","orcid":"0000-0002-9709-6699","position":1,"is_corresponding":false},{"id":1435546,"name":"William L. Macken","orcid":"0000-0003-0612-5819","position":2,"is_corresponding":false},{"id":1581422,"name":"Cathy E. Woodward","orcid":null,"position":3,"is_corresponding":false},{"id":55171,"name":"Michael G. Hanna","orcid":"0000-0003-0825-4075","position":4,"is_corresponding":false},{"id":311185,"name":"Robert D. S. Pitceathly","orcid":"0000-0002-6123-4551","position":5,"is_corresponding":false},{"id":1581421,"name":"Chiara Pizzamiglio","orcid":"0000-0001-5519-0313","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Mitochondrial Strokes: Diagnostic Challenges and Chameleons","abstract":"<jats:p>Mitochondrial stroke-like episodes (SLEs) are a hallmark of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). They should be suspected in anyone with an acute/subacute onset of focal neurological symptoms at any age and are usually driven by seizures. Suggestive features of an underlying mitochondrial pathology include evolving MRI lesions, often originating within the posterior brain regions, the presence of multisystemic involvement, including diabetes, deafness, or cardiomyopathy, and a positive family history. The diagnosis of MELAS has important implications for those affected and their relatives, given it enables early initiation of appropriate treatment and genetic counselling. However, the diagnosis is frequently challenging, particularly during the acute phase of an event. We describe four cases of mitochondrial strokes to highlight the considerable overlap that exists with other neurological disorders, including viral and autoimmune encephalitis, ischemic stroke, and central nervous system (CNS) vasculitis, and discuss the clinical, laboratory, and imaging features that can help distinguish MELAS from these differential diagnoses.</jats:p>","is_dataset_classified":null,"base_score":2.70805020110221,"endowment":2.70805020110221,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"34681037","pmcid":"PMC8535945","openalex_id":"https://openalex.org/W3207606922","authors":[],"funders":[{"funder_name":"Medical Research Council","grant_id":"MR/S002065/1","title":"Investigating the role of cardiolipin metabolism in mitochondrial DNA replication and mitochondrial division"},{"funder_name":"Medical Research Council","grant_id":"MR/S005021/1","title":"MRC Strategic Award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases"}],"total_grants":2,"fwci":0.7402,"citation_percentile":0.68694595,"influential_citations":0,"citation_trend":[{"year":2022,"count":2},{"year":2023,"count":3},{"year":2024,"count":5},{"year":2025,"count":3},{"year":2026,"count":1}],"oa_status":"gold","license":"cc-by","oa_locations":[{"url":"https://www.mdpi.com/2073-4425/12/10/1643/pdf?version=1634726875","host_type":"journal"},{"url":"https://www.mdpi.com/2073-4425/12/10/1643/pdf?version=1634726875","host_type":"GOLD"},{"url":"https://www.mdpi.com/2073-4425/12/10/1643/pdf?version=1634726875","host_type":"publisher"},{"url":"https://www.mdpi.com/2073-4425/12/10/1643/pdf","host_type":"publisher"},{"url":"https://doi.org/10.3390/genes12101643","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/34681037","host_type":"repository"},{"url":"https://doaj.org/article/abcd4817efd846f98f40a4653b2eea9e","host_type":"repository"},{"url":"https://discovery.ucl.ac.uk/id/eprint/10137220/","host_type":"repository"},{"url":"https://dx.doi.org/10.3390/genes12101643","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/8535945","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC8535945","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC8535945?pdf=render","host_type":"Europe_PMC"},{"url":"http://dx.doi.org/10.3390/genes12101643","host_type":""},{"url":"https://discovery-pp.ucl.ac.uk/id/eprint/10137220/","host_type":""}],"fields_of_study":["Mitochondrial Function and Pathology","Metabolism and Genetic Disorders","Infectious Encephalopathies and Encephalitis","Medicine","03 medical and health sciences","0302 clinical medicine","Adult","Brain","Cardiomyopathies","Central Nervous System","Deafness","Diabetes Mellitus","Diagnosis, Differential","Female","Humans","MELAS Syndrome","Magnetic Resonance Imaging","Male","Middle Aged","Mitochondrial Encephalomyopathies","Vasculitis, Central Nervous System"],"mesh_terms":["Adult","Brain","Central Nervous System","Deafness","Diabetes Mellitus","Diagnosis, Differential","Female","Humans","Magnetic Resonance Imaging","Male","Middle Aged","Cardiomyopathies","Mitochondrial Encephalomyopathies","MELAS Syndrome","Vasculitis, Central Nervous System"],"keywords":["Lactic acidosis","Mitochondrial encephalomyopathy","Stroke (engine)","Vasculitis","Medicine","Differential diagnosis","Mitochondrial disease","Neuroimaging","MELAS syndrome","Pathology","Pediatrics","Mitochondrial DNA","Disease","Mitochondrial myopathy","Internal medicine","Biology","Psychiatry","Genetics","Brain Mri","Stroke-like Episodes","Melas","Primary Mitochondrial Diseases","Adult","Central Nervous System","Male","Brain","Deafness","Middle Aged","Magnetic Resonance Imaging","Article","Diagnosis, Differential","Mitochondrial Encephalomyopathies","Diabetes Mellitus","Humans","Female","Cardiomyopathies","Vasculitis, Central Nervous System"],"sdg_mappings":[{"sdg_number":3,"sdg_label":"3. 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