title: C9ORF72 hexanucleotide repeat expansion in ALS patients from the Central European Russia population.
abstract: Cohorts of amyotrophic lateral sclerosis (ALS) patients and control individuals of Caucasian origin from the Central European Russia (Moscow city and region) were analyzed for the presence of hexanucleotide repeat GGGGCC expansion within the first intron of the C9ORF72 gene. The presence of a large (>40) repeat expansion was found in 15% of familial ALS cases (3 of 20 unrelated familial cases) and 2.5% of sporadic ALS cases (6 of 238) but in none of control cases. These results suggest that the frequency of C9ORF72 hexanucleotide repeats expansions in the Central European Russian ALS patients is significantly lower than in Western European or Northern American ALS patients of Caucasian origin but higher than in Asian ALS patients.
authors.affiliation: Department of Neurogenetics, Research Center of Neurology, Moscow, Russian Federation.
authors.forename: Natalya Y
authors.initials: NY
authors.lastname: Abramycheva
authors.affiliation: Department of Neurogenetics, Research Center of Neurology, Moscow, Russian Federation.
authors.forename: Elena V
authors.initials: EV
authors.lastname: Lysogorskaia
authors.affiliation: Department of Neurogenetics, Research Center of Neurology, Moscow, Russian Federation.
authors.forename: Maria S
authors.initials: MS
authors.lastname: Stepanova
authors.affiliation: Department of Neurogenetics, Research Center of Neurology, Moscow, Russian Federation.
authors.forename: Maria N
authors.initials: MN
authors.lastname: Zakharova
authors.affiliation: Department of Neurology and Neurosurgery, Pirogov Russian National Research Medical University, Moscow, Russian Federation.
authors.forename: Elena A
authors.initials: EA
authors.lastname: Kovrazhkina
authors.affiliation: Department of Neurology and Neurosurgery, Pirogov Russian National Research Medical University, Moscow, Russian Federation.
authors.forename: Olga D
authors.initials: OD
authors.lastname: Razinskaya
authors.affiliation: Department of Neurology and Neurosurgery, Pirogov Russian National Research Medical University, Moscow, Russian Federation.
authors.forename: Andrey P
authors.initials: AP
authors.lastname: Smirnov
authors.affiliation: Laboratory of Genetic Modeling of Neurodegenerative Processes, Institute of Physiologically Active Compounds Russian Academy of Sciences, Moscow Region, Russian Federation.
authors.forename: Andrey V
authors.initials: AV
authors.lastname: Maltsev
authors.affiliation: Laboratory of Genetic Modeling of Neurodegenerative Processes, Institute of Physiologically Active Compounds Russian Academy of Sciences, Moscow Region, Russian Federation; School of Biosciences, Cardiff University, Cardiff, UK.
authors.forename: Alexey A
authors.initials: AA
authors.lastname: Ustyugov
authors.affiliation: Laboratory of Genetic Modeling of Neurodegenerative Processes, Institute of Physiologically Active Compounds Russian Academy of Sciences, Moscow Region, Russian Federation.
authors.forename: Michail S
authors.initials: MS
authors.lastname: Kukharsky
authors.affiliation: Laboratory of Genetic Modeling of Neurodegenerative Processes, Institute of Physiologically Active Compounds Russian Academy of Sciences, Moscow Region, Russian Federation.
authors.forename: Inna V
authors.initials: IV
authors.lastname: Khritankova
authors.affiliation: Laboratory of Genetic Modeling of Neurodegenerative Processes, Institute of Physiologically Active Compounds Russian Academy of Sciences, Moscow Region, Russian Federation.
authors.forename: Sergey O
authors.initials: SO
authors.lastname: Bachurin
authors.affiliation: Department of Neuroscience, Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.
authors.forename: Johnathan
authors.initials: J
authors.lastname: Cooper-Knock
authors.affiliation: School of Biosciences, Cardiff University, Cardiff, UK.
authors.forename: Vladimir L
authors.initials: VL
authors.lastname: Buchman
authors.affiliation: Department of Neurogenetics, Research Center of Neurology, Moscow, Russian Federation.
authors.forename: Sergey N
authors.initials: SN
authors.lastname: Illarioshkin
authors.affiliation: Department of Neurology and Neurosurgery, Pirogov Russian National Research Medical University, Moscow, Russian Federation.
authors.forename: Veronika I
authors.initials: VI
authors.lastname: Skvortsova
authors.affiliation: Laboratory of Genetic Modeling of Neurodegenerative Processes, Institute of Physiologically Active Compounds Russian Academy of Sciences, Moscow Region, Russian Federation; School of Biosciences, Cardiff University, Cardiff, UK. Electronic address: ninkinan@cf.ac.uk.
authors.forename: Natalia
authors.initials: N
authors.lastname: Ninkina
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D000073885:C9orf72 Protein; D015331:Cohort Studies; D042622:DNA Repeat Expansion / Q000235:genetics*; D005060:Europe; D006801:Humans; D007438:Introns / Q000235:genetics; D011506:Proteins / Q000235:genetics*; D012426:Russia; D019680:Trinucleotide Repeat Expansion; D044465:White People
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins
keywords: Amyotrophic lateral sclerosis; Mutation; Repeat expansion