Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.17/2891
Título: Frequency of MELAS Main Mutation in a Phenotype-Targeted Young Ischemic Stroke Patient Population
Autor: Tatlisumak, T
Putaala, J
Innilä, M
Enzinger, C
Metso, TM
Curtze, S
von Sarnowski, B
Amaral-Silva, A
Jungehulsing, GJ
Tanislav, C
Thijs, V
Rolfs, A
Norrving, B
Fazekas, F
Suomalainen, A
Kolodny, EH
Palavras-chave: Adult
DNA, Mitochondrial
Female
Heterozygote
Humans
MELAS Syndrome
Male
Middle Aged
Mutation
Phenotype
Stroke
Young Adult
CHLC UCV
Data: Fev-2016
Editora: Springer Verlag
Citação: J Neurol. 2016 Feb;263(2):257-262
Resumo: 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.
Peer review: yes
URI: http://hdl.handle.net/10400.17/2891
DOI: 10.1007/s00415-015-7969-z
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