MovDisordV3, Main, Exploration, bibRecord, 002727

Novel progranulin mutation: Screening for PGRN mutations in a Portuguese series of FTD/CBS cases

Identifieur interne : 002727 ( Main/Exploration ); précédent : 002726; suivant : 002728

Novel progranulin mutation: Screening for PGRN mutations in a Portuguese series of FTD/CBS cases

Auteurs : Rita Joao Guerreiro [États-Unis, Portugal] ; Isabel Santana [Portugal] ; Jose Miguel Bras [États-Unis, Portugal] ; Tamas Revesz [Royaume-Uni] ; Olinda Rebelo [Portugal] ; Maria Helena Ribeiro [Portugal] ; Beatriz Santiago [Portugal] ; Catarina Resende Oliveira [Portugal] ; Andrew Singleton [États-Unis] ; John Hardy [États-Unis, Royaume-Uni]

Source :

Movement Disorders [ 0885-3185 ] ; 2008-07-15.

RBID : ISTEX:234B97CF46230B5635FD6943D083D574A5711B2D

Descripteurs français

Wicri :
- geographic : Portugal.

English descriptors

KwdEn :
- DNA Mutational Analysis, DNA-Binding Proteins (metabolism), Dementia (genetics), Dementia (metabolism), Family Health, Female, Humans, Intercellular Signaling Peptides and Proteins (genetics), Male, Middle Aged, Mutation (genetics), Portugal (epidemiology), Portuguese population, corticobasal syndrome, frontotemporal dementia, progranulin.
MESH :
- chemical , genetics : Intercellular Signaling Peptides and Proteins.
- chemical , metabolism : DNA-Binding Proteins.
- geographic , epidemiology : Portugal.
- genetics : Dementia, Mutation.
- metabolism : Dementia.
- DNA Mutational Analysis, Family Health, Female, Humans, Male, Middle Aged.

Abstract

Mutations in the progranulin (PGRN) gene were recently described as the cause of ubiquitin positive frontotemporal dementia (FTD) in many families. Different frequencies of these genetic changes have been reported in diverse populations leading us to determine if these mutations were a major cause of FTD in the Portuguese population. The entire coding sequence plus exon 0 of PGRN were sequenced in a consecutive series of 46 FTD/CBS Portuguese patients. Two mutations were found: a novel pathogenic insertion (p.Gln300GlnfsX61) and a previously described point variant (p.T182M) of unclear pathogenicity. Pathogenic mutations in the PGRN gene were found in one of the 36 probands studied (3% of the probands in our series) who had a corticobasal syndrome presentation, indicating that in the Portuguese population, mutations in this gene are not a major cause of FTD. © 2008 Movement Disorder Society

Url:

https://api.istex.fr/document/234B97CF46230B5635FD6943D083D574A5711B2D/fulltext/pdf

DOI: 10.1002/mds.22078

Affiliations:

Le document en format XML

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<author><name sortKey="Guerreiro, Rita Joao" sort="Guerreiro, Rita Joao" uniqKey="Guerreiro R" first="Rita Joao" last="Guerreiro">Rita Joao Guerreiro</name>
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<author><name sortKey="Santana, Isabel" sort="Santana, Isabel" uniqKey="Santana I" first="Isabel" last="Santana">Isabel Santana</name>
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<author><name sortKey="Bras, Jose Miguel" sort="Bras, Jose Miguel" uniqKey="Bras J" first="Jose Miguel" last="Bras">Jose Miguel Bras</name>
</author>
<author><name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name>
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<author><name sortKey="Rebelo, Olinda" sort="Rebelo, Olinda" uniqKey="Rebelo O" first="Olinda" last="Rebelo">Olinda Rebelo</name>
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<author><name sortKey="Ribeiro, Maria Helena" sort="Ribeiro, Maria Helena" uniqKey="Ribeiro M" first="Maria Helena" last="Ribeiro">Maria Helena Ribeiro</name>
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<author><name sortKey="Santiago, Beatriz" sort="Santiago, Beatriz" uniqKey="Santiago B" first="Beatriz" last="Santiago">Beatriz Santiago</name>
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<author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
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<front><div type="abstract" xml:lang="en">Mutations in the progranulin (PGRN) gene were recently described as the cause of ubiquitin positive frontotemporal dementia (FTD) in many families. Different frequencies of these genetic changes have been reported in diverse populations leading us to determine if these mutations were a major cause of FTD in the Portuguese population. The entire coding sequence plus exon 0 of PGRN were sequenced in a consecutive series of 46 FTD/CBS Portuguese patients. Two mutations were found: a novel pathogenic insertion (p.Gln300GlnfsX61) and a previously described point variant (p.T182M) of unclear pathogenicity. Pathogenic mutations in the PGRN gene were found in one of the 36 probands studied (3% of the probands in our series) who had a corticobasal syndrome presentation, indicating that in the Portuguese population, mutations in this gene are not a major cause of FTD. © 2008 Movement Disorder Society</div>
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<name sortKey="Ribeiro, Maria Helena" sort="Ribeiro, Maria Helena" uniqKey="Ribeiro M" first="Maria Helena" last="Ribeiro">Maria Helena Ribeiro</name>
<name sortKey="Santana, Isabel" sort="Santana, Isabel" uniqKey="Santana I" first="Isabel" last="Santana">Isabel Santana</name>
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</country>
<country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name>
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<name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
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Movement Disorders (revue)

Novel progranulin mutation: Screening for PGRN mutations in a Portuguese series of FTD/CBS cases

Novel progranulin mutation: Screening for PGRN mutations in a Portuguese series of FTD/CBS cases

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.