Syndrome Leigh caused by mutations in the SURF1 gene: clinical and molecular-genetic characteristics

Syndrome Leigh (SL) or subacute necrotizing encephalomyelopathy - is a rare hereditary genetically heterogeneous disease from the group of mitochondrial encephalomyopathies. Twenty-seven children with SL were examined using clinical, laboratory (measuring lactate levels), MRI and molecular-genetic (...

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Vydáno v:Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova Ročník 110; číslo 1; s. 25
Hlavní autoři: Tsygankova, P G, Mikhaĭlova, S V, Zakharova, E Iu, Pichkur, N A, Il'ina, E S, Nikolaeva, E A, Rudenskaia, G E, Dadali, E L, Kolpakchi, L M, Fedoniuk, I D, Matiushchenko, G N
Médium: Journal Article
Jazyk:ruština
Vydáno: Russia (Federation) 2010
Témata:
Child
Child, Preschool
Diagnosis, Differential
DNA - genetics
Female
Genetic Predisposition to Disease
Genotype
Humans
Infant
Leigh Disease - diagnosis
Leigh Disease - epidemiology
Leigh Disease - genetics
Magnetic Resonance Imaging
Male
Membrane Proteins - genetics
Membrane Proteins - metabolism
Mitochondrial Proteins - genetics
Mitochondrial Proteins - metabolism
Mutation
Polymerase Chain Reaction
Prevalence
Russia - epidemiology
Ukraine - epidemiology
Ukraine
Russia
ISSN:1997-7298
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Shrnutí:Syndrome Leigh (SL) or subacute necrotizing encephalomyelopathy - is a rare hereditary genetically heterogeneous disease from the group of mitochondrial encephalomyopathies. Twenty-seven children with SL were examined using clinical, laboratory (measuring lactate levels), MRI and molecular-genetic (polymerase chain reaction genotyping of 9 exons of the SURF1 gene) studies. The mean age of manifestation was 11,6 months. The main manifestations of SL were: delay of psychomotor development, diffuse muscle hypertonic, cerebellar syndrome, ophthalmoparesis, hypertrichosis. The disease had a progressive course with the loss of acquired skills. The blood lactate concentration was increased on average up to 3,1 mM/ml (from 1,9 to 5,1 mM/ml) compared to normal values (1,8 mM/ml). Brain MRI revealed the subcortical and cortical atrophy (80% of cases), symmetrical distinctly delineated hyperintense lesions on T2-weighted images (demyelization) in the basal ganglia and the brain stem (50%), as well as in the cerebellum (25%). Genotyping identified 7 different mutations. The most frequent (64,8%) was the deletion of 2 nucleotides (845delCT) in exon 8 that was in line with early data of Polish researchers thus indicating the Slavic origin of this mutation. Other mutations (574-575insCTGT, 311-321del10insAT and IVS8-1G>) were also frequent in the Russian population.
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ObjectType-Feature-1
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ISSN:1997-7298