New endemic familial parkinsonism in south Moravia, Czech Republic and its genetical background
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00098892%3A_____%2F18%3AN0000051" target="_blank" >RIV/00098892:_____/18:N0000051 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14110/18:00105515 RIV/00159816:_____/18:00069028
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
New endemic familial parkinsonism in south Moravia, Czech Republic and its genetical background
Original language description
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
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30302 - Epidemiology
Result continuities
Project
<a href="/en/project/NV15-32715A" target="_blank" >NV15-32715A: Familial aggregation of neurodegenerative parkinsonism with dementia in Czech Republic-clinical, molecular - genetic and morphological study (HORPARK)</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Medicine
ISSN
0025-7974
e-ISSN
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Volume of the periodical
97
Issue of the periodical within the volume
38
Country of publishing house
US - UNITED STATES
Number of pages
7
Pages from-to
e12313
UT code for WoS article
000449338200030
EID of the result in the Scopus database
2-s2.0-85054424348