Parkin (PARK 2) Mutations Are Rare 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%2F14%3A10279689" target="_blank" >RIV/00216208:11110/14:10279689 - isvavai.cz</a>

Alternative codes found

RIV/00064165:_____/14:10279689

Result on the web

<a href="http://dx.doi.org/10.1371/journal.pone.0107585" target="_blank" >http://dx.doi.org/10.1371/journal.pone.0107585</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1371/journal.pone.0107585" target="_blank" >10.1371/journal.pone.0107585</a>

Result language

angličtina

Original language name

Parkin (PARK 2) Mutations Are Rare in Czech Patients with Early-Onset Parkinson's Disease

Original language description

Objective: The aim of the study is to determine the frequency of parkin allelic variants in Czech early-onset Parkinson's disease patients and healthy controls. Methods: A total of 70 early-onset Parkinson's disease patients (age at onset #40 years) and75 controls were screened for the sequence variants and exon rearrangements in the parkin gene. Results: Parkin mutations were identified in five patients (7.1%): the p.R334C point mutation was present in one patient, four patients had exon deletions. The detected mutations were observed in the heterozygous state except one homozygous deletion of the exon 4. No mutations were obtained in control subjects. A novel sequence variant p.V380I (c.1138G.A) was identified in one control. Non-pathogenic polymorphisms p.S167N and p.D394N were seen in similar percentage in patients and controls, polymorphism p.V380L was almost twice as frequent in controls as in patients. Conclusions: Our study contributes to the growing body of evidence on the lo

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

FH - Neurology, neuro-surgery, nuero-sciences

OECD FORD branch

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Project

<a href="/en/project/NT11331" target="_blank" >NT11331: Molecular pathology and genetic diagnostics of Parkinson's disease</a><br>

Continuities

S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2014

Confidentiality

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

Name of the periodical

PLoS ONE

ISSN

1932-6203

e-ISSN

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Volume of the periodical

9

Issue of the periodical within the volume

9

Country of publishing house

US - UNITED STATES

Number of pages

6

Pages from-to

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UT code for WoS article

000342491600032

EID of the result in the Scopus database

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