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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)
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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)
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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)
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skos:notation
| - RIV/00216208:11110/10:7031!RIV11-MZ0-11110___
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http://linked.open...avai/riv/aktivita
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http://linked.open...avai/riv/aktivity
| - P(NR9215), S, Z(MSM0021620849)
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http://linked.open...iv/cisloPeriodika
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http://linked.open...vai/riv/dodaniDat
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http://linked.open...aciTvurceVysledku
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http://linked.open.../riv/druhVysledku
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http://linked.open...iv/duvernostUdaju
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http://linked.open...titaPredkladatele
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http://linked.open...dnocenehoVysledku
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http://linked.open...ai/riv/idVysledku
| - RIV/00216208:11110/10:7031
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http://linked.open...riv/jazykVysledku
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http://linked.open.../riv/klicovaSlova
| - early-onset Parkinson's disease; genotype; phenotype; mutations; polymorphisms; parkin; Czech; gene; association; susceptibility; polymorphisms; dysfunction; diagnosis; common (en)
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http://linked.open.../riv/klicoveSlovo
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http://linked.open...odStatuVydavatele
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http://linked.open...ontrolniKodProRIV
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http://linked.open...i/riv/nazevZdroje
| - Neuroendocrinology letters
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http://linked.open...in/vavai/riv/obor
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http://linked.open...ichTvurcuVysledku
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http://linked.open...cetTvurcuVysledku
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http://linked.open...vavai/riv/projekt
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http://linked.open...UplatneniVysledku
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http://linked.open...v/svazekPeriodika
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http://linked.open...iv/tvurceVysledku
| - Fiala, Ondřej
- Kučerová, Jana
- Roth, Jan
- Růžička, Evžen
- Nováková, Lucie
- Martásek, Pavel
- Pospíšilová, Lenka
- Matejckova, M.
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http://linked.open...ain/vavai/riv/wos
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http://linked.open...n/vavai/riv/zamer
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issn
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number of pages
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http://localhost/t...ganizacniJednotka
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