About: Parkin mutations and phenotypic features in Czech patients with early-onset Parkinson's disease

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Mutations in several genes such as parkin can be detected in up to 20% of patients with early-onset Parkinson's disease (EOPD). The aim of our study was to determine the frequency of parkin alterations and phenotypic characteristics in Czech EOPD patients. A total of 45 EOPD individuals (age at onset <45 years) were phenotyped and screened for parkin mutations. In total, 19 patients (42.2%) were carriers of previously described heterozygous genetic alterations. Parkin mutations (Ex2del, R402C) were identified in two (4.4%) cases, non-pathogenic variant A82E plus polymorphism D394N occurred in one (2.2%) patient and parkin polymorphisms (3xS167N, 1xR334C, 7xV380L, 4xD394N) were found in 15 (34.9%) individuals. Furthermore, the G2019S mutation in the LRRK2 gene was found in one (2.2%) subject. The clinical characteristics of our patients correspond to previous descriptions of EOPD phenotype. This is the first report on EOPD-associated genetic alterations among Czech patients. Mutations in several genes such as parkin can be detected in up to 20% of patients with early-onset Parkinson's disease (EOPD). The aim of our study was to determine the frequency of parkin alterations and phenotypic characteristics in Czech EOPD patients. A total of 45 EOPD individuals (age at onset <45 years) were phenotyped and screened for parkin mutations. In total, 19 patients (42.2%) were carriers of previously described heterozygous genetic alterations. Parkin mutations (Ex2del, R402C) were identified in two (4.4%) cases, non-pathogenic variant A82E plus polymorphism D394N occurred in one (2.2%) patient and parkin polymorphisms (3xS167N, 1xR334C, 7xV380L, 4xD394N) were found in 15 (34.9%) individuals. Furthermore, the G2019S mutation in the LRRK2 gene was found in one (2.2%) subject. The clinical characteristics of our patients correspond to previous descriptions of EOPD phenotype. This is the first report on EOPD-associated genetic alterations among Czech patients. (en)
Title	Parkin mutations and phenotypic features in Czech patients with early-onset Parkinson's disease Parkin mutations and phenotypic features in Czech patients with early-onset Parkinson's disease (en)
skos:prefLabel	Parkin mutations and phenotypic features in Czech patients with early-onset Parkinson's disease Parkin mutations and phenotypic features in Czech patients with early-onset Parkinson's disease (en)
skos:notation	RIV/00216208:11110/10:7031!RIV11-MZ0-11110___
http://linked.open...avai/riv/aktivita	P S Z
http://linked.open...avai/riv/aktivity	P(NR9215), S, Z(MSM0021620849)
http://linked.open...iv/cisloPeriodika	2
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Nováková, Lucie Růžička, Evžen Roth, Jan Martásek, Pavel Fiala, Ondřej Pospíšilová, Lenka Kučerová, Jana
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / 1. lékařská fakulta
http://linked.open...dnocenehoVysledku	278121
http://linked.open...ai/riv/idVysledku	RIV/00216208:11110/10:7031
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	early-onset Parkinson's disease; genotype; phenotype; mutations; polymorphisms; parkin; Czech; gene; association; susceptibility; polymorphisms; dysfunction; diagnosis; common (en)
http://linked.open.../riv/klicoveSlovo	dysfunction common Czech association diagnosis gene mutations polymorphisms susceptibility genotype phenotype early-onset Parkinson's disease parkin
http://linked.open...odStatuVydavatele	SE - Švédské království
http://linked.open...ontrolniKodProRIV	[773B486A20FB]
http://linked.open...i/riv/nazevZdroje	Neuroendocrinology letters
http://linked.open...in/vavai/riv/obor	CE
http://linked.open...ichTvurcuVysledku	7 (xsd:int)
http://linked.open...cetTvurcuVysledku	8 (xsd:int)
http://linked.open...vavai/riv/projekt	Molecular pathology and pathophysiology of neurodegenerative diseases accompanied by movement disorders
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	31
http://linked.open...iv/tvurceVysledku	Fiala, Ondřej Kučerová, Jana Roth, Jan Růžička, Evžen Nováková, Lucie Martásek, Pavel Pospíšilová, Lenka Matejckova, M.
http://linked.open...ain/vavai/riv/wos	000277702100005
http://linked.open...n/vavai/riv/zamer	Neuropsychiatrické aspekty neurodegenerativních onemocnění
issn	0172-780X
number of pages	6 (xsd:int)
http://localhost/t...ganizacniJednotka	11110

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