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Frequency of MELAS ...
Frequency of MELAS main mutation in a phenotype-targeted young ischemic stroke patient population
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- Tatlisumak, Turgut (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi,Institute of Neuroscience and Physiology
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Putaala, J. (author)
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Innila, M. (author)
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Enzinger, C. (author)
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Metso, T. M. (author)
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Curtze, S. (author)
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von Sarnowski, B. (author)
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Amaral-Silva, A. (author)
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Jungehulsing, G. J. (author)
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Tanislav, C. (author)
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Thijs, V. (author)
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Rolfs, A. (author)
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- Norrving, Bo (author)
- Lund University,Lunds universitet,Neurologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Stroke policy och kvalitetsregisterforskning,Forskargrupper vid Lunds universitet,Neurology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Stroke policy and quality register research,Lund University Research Groups
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Fazekas, F. (author)
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Suomalainen, A. (author)
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Kolodny, E. H. (author)
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(creator_code:org_t)
- 2015-11-14
- 2016
- English.
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In: Journal of Neurology. - : Springer Science and Business Media LLC. - 0340-5354 .- 1432-1459. ; 263:2, s. 257-262
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Abstract
Subject headings
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- 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 (a parts per thousand currency sign165 cm for males; a parts per thousand currency sign155 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Keyword
- Mitochondrion
- Ischemic stroke
- Young
- Diagnosis
- MELAS
- Mitochondrial disease
- Mutation
- mitochondrial-dna mutations
- fabry patients sifap1
- m.3243a-greater-than-g mutation
- management
- disorders
- decrease
- episodes
- disease
- risk
- Neurosciences & Neurology
Publication and Content Type
- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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Tatlisumak, Turg ...
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Putaala, J.
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Innila, M.
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Enzinger, C.
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Metso, T. M.
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Curtze, S.
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show more...
-
von Sarnowski, B ...
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Amaral-Silva, A.
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Jungehulsing, G. ...
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Tanislav, C.
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Thijs, V.
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Rolfs, A.
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Norrving, Bo
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Fazekas, F.
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Suomalainen, A.
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Kolodny, E. H.
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Neurosciences
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Neurology
- Articles in the publication
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Journal of Neuro ...
- By the university
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University of Gothenburg
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Lund University