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

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F10%3A7031" target="_blank" >RIV/00216208:11110/10:7031 - isvavai.cz</a>

Alternative codes found

RIV/00064165:_____/10:7031

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

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

Original language 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.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

CE - Biochemistry

OECD FORD branch

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Project

<a href="/en/project/NR9215" target="_blank" >NR9215: Molecular pathology and pathophysiology of neurodegenerative diseases accompanied by movement disorders</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>Z - Vyzkumny zamer (s odkazem do CEZ)<br>S - Specificky vyzkum na vysokych skolach

Publication year

2010

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Neuroendocrinology letters

ISSN

0172-780X

e-ISSN

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Volume of the periodical

31

Issue of the periodical within the volume

2

Country of publishing house

SE - SWEDEN

Number of pages

6

Pages from-to

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UT code for WoS article

000277702100005

EID of the result in the Scopus database

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