New endemic familial parkinsonism in south Moravia, Czech
Republic and its genetical background

J 2018

New endemic familial parkinsonism in south Moravia, Czech Republic and its genetical background

BARTONIKOVA, Tereza; Katerina MENSIKOVA; Kristyna KOLARIKOVA; Radek VODICKA; Radek VRTEL et. al.

Základní údaje

Originální název

New endemic familial parkinsonism in south Moravia, Czech Republic and its genetical background

Autoři

Vydání

Medicine, Philadelphia, Lippincott Williams & Wilkins, 2018, 0025-7974

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30103 Neurosciences

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 1.870

Kód RIV

RIV/00216224:14110/18:00105515

Organizační jednotka

Lékařská fakulta

DOI

https://doi.org/10.1097/MD.0000000000012313

UT WoS

000449338200030

EID Scopus

2-s2.0-85054424348

Klíčová slova anglicky

familial neurodegenerative parkinsonism; molecular-genetic background; population with long-lasting inbreeding behavior

Štítky

14110127, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 10. 2. 2019 16:44, Soňa Böhmová

Anotace

V originále

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.

Citovat

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 a Petr KANOVSKY. New endemic familial parkinsonism in south Moravia, Czech Republic and its genetical background. Medicine. Philadelphia: Lippincott Williams & Wilkins, 2018, roč. 97, č. 38, s. 1-7. ISSN 0025-7974. Dostupné z: https://doi.org/10.1097/MD.0000000000012313.

@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 = {https://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 a Petr KANOVSKY. New endemic familial parkinsonism in south Moravia, Czech Republic and its genetical background. \textit{Medicine}. Philadelphia: Lippincott Williams \&{} Wilkins, 2018, roč.~97, č.~38, s.~1-7. ISSN~0025-7974. Dostupné z: https://doi.org/10.1097/MD.0000000000012313.

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