Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F14%3A10285036" target="_blank" >RIV/00216208:11110/14:10285036 - isvavai.cz</a>

Alternative codes found

RIV/00064190:_____/14:#0000793

Result on the web

<a href="http://dx.doi.org/10.1007/s00401-014-1298-7" target="_blank" >http://dx.doi.org/10.1007/s00401-014-1298-7</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s00401-014-1298-7" target="_blank" >10.1007/s00401-014-1298-7</a>

Result language

angličtina

Original language name

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

Original language description

Mutations in the gene coding for Sequestosome 1 (SQSTM1) have been genetically associated with amyotrophic lateral sclerosis (ALS) and Paget disease of bone. In the present study, we analyzed the SQSTM1 coding sequence for mutations in an extended cohortof 1,808 patients with frontotemporal lobar degeneration (FTLD), ascertained within the European Early-Onset Dementia consortium. As control dataset, we sequenced 1,625 European control individuals and analyzed whole-exome sequence data of 2,274 Germanindividuals (total n = 3,899). Association of rare SQSTM1 mutations was calculated in a meta-analysis of 4,332 FTLD and 10,240 control alleles. We identified 25 coding variants in FTLD patients of which 10 have not been described. Fifteen mutations wereabsent in the control individuals (carrier frequency < 0.00026) whilst the others were rare in both patients and control individuals. When pooling all variants with a minor allele frequency < 0.01, an overall frequency of 3.2 % was calcul

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

Continuities

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

Acta Neuropathologica

ISSN

0001-6322

e-ISSN

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Volume of the periodical

128

Issue of the periodical within the volume

3

Country of publishing house

DE - GERMANY

Number of pages

14

Pages from-to

397-410

UT code for WoS article

000340551900007

EID of the result in the Scopus database

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