A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats.

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064190%3A_____%2F12%3A%230000357" target="_blank" >RIV/00064190:_____/12:#0000357 - isvavai.cz</a>

Alternative codes found

RIV/00064190:_____/13:#0000783

Result on the web

<a href="http://dx.doi.org/10.1002/humu.22244" target="_blank" >http://dx.doi.org/10.1002/humu.22244</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1002/humu.22244" target="_blank" >10.1002/humu.22244</a>

Result language

angličtina

Original language name

A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats.

Original language description

We assessed the geographical distribution of C9orf72 G(4) C(2) expansions in a pan-European frontotemporal lobar degeneration (FTLD) cohort (n = 1,205), ascertained by the European Early-Onset Dementia (EOD) consortium. Next, we performed a meta-analysisof our data and that of other European studies, together 2,668 patients from 15 Western European countries. The frequency of the C9orf72 expansions in Western Europe was 9.98% in overall FTLD, with 18.52% in familial, and 6.26% in sporadic FTLD patients. Outliers were Finland and Sweden with overall frequencies of respectively 29.33% and 20.73%, but also Spain with 25.49%. In contrast, prevalence in Germany was limited to 4.82%. In addition, we studied the role of intermediate repeats (7-24 repeat units), which are strongly correlated with the risk haplotype, on disease and C9orf72 expression. In vitro reporter gene expression studies demonstrated significantly decreased transcriptional activity of C9orf72 with increasing number of nor

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

FE - Other fields of internal medicine

OECD FORD branch

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Project

<a href="/en/project/NT12094" target="_blank" >NT12094: Multidisciplinary approach in the diagnosis of frontotemporal lobar degenerations and tauopathies: new insights into pathogenetic mechanisms</a><br>

Continuities

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year

2013

Confidentiality

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

Name of the periodical

Human Mutation

ISSN

1059-7794

e-ISSN

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Volume of the periodical

34

Issue of the periodical within the volume

2

Country of publishing house

US - UNITED STATES

Number of pages

11

Pages from-to

363-373

UT code for WoS article

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EID of the result in the Scopus database

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