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Title: Frequency of MELAS main mutation in a phenotype-targeted young ischemic stroke patient population.
Austin Authors: Tatlisumak, Turgut;Putaala, Jukka;Innilä, Markus;Enzinger, Christian;Metso, Tiina M;Curtze, Sami;von Sarnowski, Bettina;Amaral-Silva, Alexandre;Jungehulsing, Gerhard Jan;Tanislav, Christian;Thijs, Vincent N ;Rolfs, Arndt;Norrving, Bo;Fazekas, Franz;Suomalainen, Anu;Kolodny, Edwin H
Affiliation: The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Heidelberg, Victoria, Australia
Austin Health, Heidelberg, Victoria, Australia
Department of Neurology, Hospital Vila Franca de Xira, Vila Franca de Xira, Portugal
Department of Neurology, Unidade Cerebrovascular Hospital de São José, Lisbon, Portugal
Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden
Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Per Dubbsgatan 14, POB 430, 40530, Gothenburg, Sweden
Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland
Department of Neurology, Ernst-Moritz-Arndt University Medicine, Greifswald, Germany
Department of Neurology, Charite University, Berlin, Germany
Department of Neurology, University of Giessen, Giessen, Germany
Albrecht-Kossel-Institute for Neuroregeneration, University of Rostock, Rostock, Germany
Department of Clinical Neurosciences Neurology, Lund University, Lund, Sweden
Department of Neurology, Medical University of Graz, Graz, Austria
Research Program for Molecular Neurology, University of Helsinki, Helsinki, Finland
Department of Neurology, New York University School of Medicine, New York, NY, USA
Issue Date: Feb-2016
Date: 2015-11-14
Publication information: Journal of Neurology 2016; 263(2): 257-262
Abstract: Mitochondrial diseases, predominantly mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), may occasionally underlie or coincide with ischemic stroke (IS) in young and middle-aged individuals. We searched for undiagnosed patients with MELAS in a target subpopulation of unselected young IS patients enrolled in the Stroke in Young Fabry Patients study (sifap1). Among the 3291 IS patients aged 18-55 years recruited to the sifap1 study at 47 centers across 14 European countries, we identified potential MELAS patients with the following phenotypic features: (a) diagnosed cardiomyopathy or (b) presence of two of the three following findings: migraine, short stature (≤165 cm for males; ≤155 cm for females), and diabetes. Identified patients' blood samples underwent analysis of the common MELAS mutation, m.3243A>G in the MTTL1 gene of mitochondrial DNA. Clinical and cerebral MRI features of the mutation carriers were reviewed. We analyzed blood samples of 238 patients (177 with cardiomyopathy) leading to identification of four previously unrecognized MELAS main mutation carrier-patients. Their clinical and MRI characteristics were within the expectation for common IS patients except for severe hearing loss in one patient and hyperintensity of the pulvinar thalami on T1-weighted MRI in another one. Genetic testing for the m.3243A>G MELAS mutation in young patients with IS based on phenotypes suggestive of mitochondrial disease identifies previously unrecognized carriers of MELAS main mutation, but does not prove MELAS as the putative cause.
DOI: 10.1007/s00415-015-7969-z
ORCID: 0000-0002-6614-8417
Journal: Journal of Neurology
PubMed URL: 26566914
Type: Journal Article
Subjects: Diagnosis
Ischaemic Stroke
Mitochondrial disease
Appears in Collections:Journal articles

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