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@article{1486816,
author = {Bartonikova, Tereza and Mensikova, Katerina and Kolarikova, Kristyna and Vodicka, Radek and Vrtel, Radek and Otruba, Pavel and Kaiserova, Michaela and Vastik, Miroslav and Mikulicova, Lenka and Ovcoka, Josef and Sachova, Ludmila and Dvorsky, Frantisek and Krsa, Jiri and Jugas, Petr and Godava, Marek and Bareš, Martin and Janout, Vladimir and Hlustik, Petr and Prochazka, Martin and Kanovsky, Petr},
article_location = {Philadelphia},
article_number = {38},
doi = {http://dx.doi.org/10.1097/MD.0000000000012313},
keywords = {familial neurodegenerative parkinsonism; molecular-genetic background; population with long-lasting inbreeding behavior},
language = {eng},
issn = {0025-7974},
journal = {Medicine},
title = {New endemic familial parkinsonism in south Moravia, Czech Republic and its genetical background},
volume = {97},
year = {2018}
}
TY - JOUR
ID - 1486816
AU - Bartonikova, Tereza - Mensikova, Katerina - Kolarikova, Kristyna - Vodicka, Radek - Vrtel, Radek - Otruba, Pavel - Kaiserova, Michaela - Vastik, Miroslav - Mikulicova, Lenka - Ovcoka, Josef - Sachova, Ludmila - Dvorsky, Frantisek - Krsa, Jiri - Jugas, Petr - Godava, Marek - Bareš, Martin - Janout, Vladimir - Hlustik, Petr - Prochazka, Martin - Kanovsky, Petr
PY - 2018
TI - New endemic familial parkinsonism in south Moravia, Czech Republic and its genetical background
JF - Medicine
VL - 97
IS - 38
SP - 1-7
EP - 1-7
PB - Lippincott Williams & Wilkins
SN - 00257974
KW - familial neurodegenerative parkinsonism
KW - molecular-genetic background
KW - population with long-lasting inbreeding behavior
N2 - An increased prevalence of familial neurodegenerative parkinsonism or cognitive deterioration was recently found in a small region of southeastern Moravia. The aim of the study was to assess the genetic background of this familial disease. Variants in the ADH1C, EIF4G1, FBXO7, GBA + GBAP1, GIGYF2, HTRA2, LRRK2, MAPT, PRKN, DJ-1, PINK1, PLA2G6, SNCA, UCHL1, VPS35 genes were examined in 12 clinically positive probands of the pedigree in which familial atypical neurodegenerative parkinsonism was identified in previous epidemiological studies. Libraries were sequenced by massive parallel sequencing (MPS) on the Personal Genome Machine (PGM; Ion Torrent). Data were analyzed using Torrent Suite and IonReporter software. All variants were then verified and confirmed by Sanger sequencing. We identified 31 rare heterozygous variants: 11 missense variants, 3 synonymous variants, 8 variants in the UTR region, and 9 intronic variants. Six variants (rs1801334, rs33995883, rs35507033, rs781737269, rs779760087, and rs63750072) were evaluated as pathogenic by at least one in-silico predictor. No single "founder" pathogenic variant associated with parkinsonism has been found in any of the probands from researched pedigree. It may rather be assumed that the familial occurrence of this disease is caused by the combined influence of several "small-effect" genetic variants that accumulate in the population with long-lasting inbreeding behavior.
ER -
BARTONIKOVA, Tereza, Katerina MENSIKOVA, Kristyna KOLARIKOVA, Radek VODICKA, Radek VRTEL, Pavel OTRUBA, Michaela KAISEROVA, Miroslav VASTIK, Lenka MIKULICOVA, Josef OVCOKA, Ludmila SACHOVA, Frantisek DVORSKY, Jiri KRSA, Petr JUGAS, Marek GODAVA, Martin BAREŠ, Vladimir JANOUT, Petr HLUSTIK, Martin PROCHAZKA and Petr KANOVSKY. New endemic familial parkinsonism in south Moravia, Czech Republic and its genetical background. \textit{Medicine}. Philadelphia: Lippincott Williams \&{} Wilkins, 2018, vol.~97, No~38, p.~1-7. ISSN~0025-7974. Available from: https://dx.doi.org/10.1097/MD.0000000000012313.
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