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  1. Artikel ; Online: Intrathecal synthesis of oligoclonal IgG in patients with Viliuisk encephalomyelitis: The relationship between oligoclonal bands and clinical features.

    Sivtseva, Tatyana M / Vladimirtsev, Vsevolod A / Nikitina, Raisa S / Davidova, Tatyana K / Popov, Dygyn A / Osakovsky, Vladimir L

    Journal of the neurological sciences

    2018  Band 384, Seite(n) 84–88

    Abstract: Viliuisk encephalomyelitis (VE) is a neurodegenerative disease that afflicts aboriginal people of Yakutia in Siberia with unknown etiology. Oligoclonal IgG bands (OCBs) were discovered in the VE patients (Green et al., 2003). In this study we analysed ... ...

    Abstract Viliuisk encephalomyelitis (VE) is a neurodegenerative disease that afflicts aboriginal people of Yakutia in Siberia with unknown etiology. Oligoclonal IgG bands (OCBs) were discovered in the VE patients (Green et al., 2003). In this study we analysed the association of OCBs with clinical symptoms in 58 VE patients. Positive oligoclonal IgG are associated with a shorter duration of disease (p=0.002), older age of onset (p=0.023) and high frequency of main neurological VE symptoms such as dementia, frontal dysbasia, bulbar disorders, muscle atrophy and centrally caused pelvic disorders. Our results show that the OCBs in VE patients are associated with more severe central nervous system (CNS) damage and may cause secondary complications in the course of the disease.
    Mesh-Begriff(e) Adult ; Age Factors ; Aged ; Brain/diagnostic imaging ; Chronic Disease ; Disease Progression ; Encephalomyelitis/diagnostic imaging ; Encephalomyelitis/physiopathology ; Female ; Humans ; Immunoglobulin G/biosynthesis ; Immunoglobulin G/cerebrospinal fluid ; Magnetic Resonance Imaging ; Male ; Mental Status and Dementia Tests ; Middle Aged ; Oligoclonal Bands/biosynthesis ; Oligoclonal Bands/cerebrospinal fluid ; Severity of Illness Index
    Chemische Substanzen Immunoglobulin G ; Oligoclonal Bands
    Sprache Englisch
    Erscheinungsdatum 2018-01-15
    Erscheinungsland Netherlands
    Dokumenttyp Journal Article
    ZDB-ID 80160-4
    ISSN 1878-5883 ; 0022-510X ; 0374-8642
    ISSN (online) 1878-5883
    ISSN 0022-510X ; 0374-8642
    DOI 10.1016/j.jns.2017.11.030
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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    Verfügbar in ZB MED Köln/Königswinter

    Zs.A 308: Hefte anzeigen Standort:
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  2. Artikel ; Online: Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1.

    Platonov, Fedor A / Tyryshkin, Kathrin / Tikhonov, Dmitriy G / Neustroyeva, Tatyana S / Sivtseva, Tatyana M / Yakovleva, Natalya V / Nikolaev, Valerian P / Sidorova, Oksana G / Kononova, Sardana K / Goldfarb, Lev G / Renwick, Neil M

    Neurogenetics

    2016  Band 17, Heft 3, Seite(n) 179–185

    Abstract: Spinocerebellar ataxia type 1 (SCA1) is the major and likely the only type of autosomal dominant cerebellar ataxia in the Sakha (Yakut) people of Eastern Siberia. The prevalence rate of SCA1 has doubled over the past 21 years peaking at 46 cases per 100, ... ...

    Abstract Spinocerebellar ataxia type 1 (SCA1) is the major and likely the only type of autosomal dominant cerebellar ataxia in the Sakha (Yakut) people of Eastern Siberia. The prevalence rate of SCA1 has doubled over the past 21 years peaking at 46 cases per 100,000 rural population. The age at death correlates closely with the number of CAG triplet repeats in the mutant ATXN1 gene (r = -0.81); most patients with low-medium (39-55) repeat numbers survived until the end of reproductive age. The number of CAG repeats expands in meiosis, particularly in paternal transmissions; the average total increase in intergenerational transmissions in our cohort was estimated at 1.6 CAG repeats. The fertility rates of heterozygous carriers of 39-55 CAG repeats in women were no different from those of the general Sakha population. Overall, the survival of mutation carriers through reproductive age, unaltered fertility rates, low childhood mortality in SCA1-affected families, and intergenerational transmission of increasing numbers of CAG repeats in the ATXN1 gene indicate that SCA1 in the Sakha population will be maintained at high prevalence levels. The low (0.19) Crow's index of total selection intensity in our SCA1 cohort implies that this mutation is unlikely to be eliminated through natural selection alone.
    Mesh-Begriff(e) Adult ; Aged ; Aged, 80 and over ; Ataxin-1/genetics ; Birth Rate ; Cohort Studies ; Female ; Genetic Fitness ; Heterozygote ; Humans ; Incidence ; Male ; Middle Aged ; Mutation ; Selection, Genetic ; Siberia/epidemiology ; Spinocerebellar Ataxias/epidemiology ; Spinocerebellar Ataxias/genetics
    Chemische Substanzen ATXN1 protein, human ; Ataxin-1
    Sprache Englisch
    Erscheinungsdatum 2016-04-22
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Intramural
    ZDB-ID 1339887-8
    ISSN 1364-6753 ; 1364-6745
    ISSN (online) 1364-6753
    ISSN 1364-6745
    DOI 10.1007/s10048-016-0481-5
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 5295: Hefte anzeigen Standort:
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    Jg. 1995 - 2021: Lesesall (2.OG)
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  3. Artikel ; Online: Genome-wide sequence analyses of ethnic populations across Russia.

    Zhernakova, Daria V / Brukhin, Vladimir / Malov, Sergey / Oleksyk, Taras K / Koepfli, Klaus Peter / Zhuk, Anna / Dobrynin, Pavel / Kliver, Sergei / Cherkasov, Nikolay / Tamazian, Gaik / Rotkevich, Mikhail / Krasheninnikova, Ksenia / Evsyukov, Igor / Sidorov, Sviatoslav / Gorbunova, Anna / Chernyaeva, Ekaterina / Shevchenko, Andrey / Kolchanova, Sofia / Komissarov, Alexei /
    Simonov, Serguei / Antonik, Alexey / Logachev, Anton / Polev, Dmitrii E / Pavlova, Olga A / Glotov, Andrey S / Ulantsev, Vladimir / Noskova, Ekaterina / Davydova, Tatyana K / Sivtseva, Tatyana M / Limborska, Svetlana / Balanovsky, Oleg / Osakovsky, Vladimir / Novozhilov, Alexey / Puzyrev, Valery / O'Brien, Stephen J

    Genomics

    2019  Band 112, Heft 1, Seite(n) 442–458

    Abstract: The Russian Federation is the largest and one of the most ethnically diverse countries in the world, however no centralized reference database of genetic variation exists to date. Such data are crucial for medical genetics and essential for studying ... ...

    Abstract The Russian Federation is the largest and one of the most ethnically diverse countries in the world, however no centralized reference database of genetic variation exists to date. Such data are crucial for medical genetics and essential for studying population history. The Genome Russia Project aims at filling this gap by performing whole genome sequencing and analysis of peoples of the Russian Federation. Here we report the characterization of genome-wide variation of 264 healthy adults, including 60 newly sequenced samples. People of Russia carry known and novel genetic variants of adaptive, clinical and functional consequence that in many cases show allele frequency divergence from neighboring populations. Population genetics analyses revealed six phylogeographic partitions among indigenous ethnicities corresponding to their geographic locales. This study presents a characterization of population-specific genomic variation in Russia with results important for medical genetics and for understanding the dynamic population history of the world's largest country.
    Mesh-Begriff(e) Adult ; Communicable Diseases/genetics ; Demography ; Genetic Variation ; Haplotypes ; Humans ; INDEL Mutation ; Pharmacogenetics ; Phenotype ; Phylogeography ; Polymorphism, Single Nucleotide ; Russia/ethnology ; Selection, Genetic ; Whole Genome Sequencing
    Sprache Englisch
    Erscheinungsdatum 2019-03-19
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 356334-0
    ISSN 1089-8646 ; 0888-7543
    ISSN (online) 1089-8646
    ISSN 0888-7543
    DOI 10.1016/j.ygeno.2019.03.007
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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    Verfügbar in ZB MED Köln/Königswinter

    Zs.A 2367: Hefte anzeigen Standort:
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    Jg. 1995 - 2021: Lesesall (2.OG)
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