title: [Syndrome Leigh caused by mutations in the SURF1 gene: clinical and molecular-genetic characteristics].
abstract: 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.
authors.forename: P G
authors.initials: PG
authors.lastname: Tsygankova
authors.forename: S V
authors.initials: SV
authors.lastname: Mikhaĭlova
authors.forename: E Iu
authors.initials: EIu
authors.lastname: Zakharova
authors.forename: N A
authors.initials: NA
authors.lastname: Pichkur
authors.forename: E S
authors.initials: ES
authors.lastname: Il'ina
authors.forename: E A
authors.initials: EA
authors.lastname: Nikolaeva
authors.forename: G E
authors.initials: GE
authors.lastname: Rudenskaia
authors.forename: E L
authors.initials: EL
authors.lastname: Dadali
authors.forename: L M
authors.initials: LM
authors.lastname: Kolpakchi
authors.forename: I D
authors.initials: ID
authors.lastname: Fedoniuk
authors.forename: G N
authors.initials: GN
authors.lastname: Matiushchenko
mesh_terms: D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D024101:Mitochondrial Proteins / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D016133:Polymerase Chain Reaction; D015995:Prevalence; D012426:Russia / Q000453:epidemiology; D014455:Ukraine / Q000453:epidemiology
chemical_list: D008565:Membrane Proteins; D024101:Mitochondrial Proteins; C092928:Surf-1 protein; D004247:DNA