MovDisordV3, Main, Exploration, bibRecord, 002A65

Novel Progranulin Mutation : Screening for PGRN Mutations in a Portuguese Series of FTD/CBS Cases

Identifieur interne : 002A65 ( Main/Exploration ); précédent : 002A64; suivant : 002A66

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.

RBID : Pascal:08-0396177

Descripteurs français

Pascal (Inist)
- Démence frontotemporale, Pathologie du système nerveux, Mutation, Dépistage, Portugais.

English descriptors

KwdEn :
- Frontotemporal dementia, Medical screening, Mutation, Nervous system diseases, Portuguese.

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.

Affiliations:

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

to stream PascalFrancis, to step Corpus: 001206
to stream PascalFrancis, to step Curation: 001B13
to stream PascalFrancis, to step Checkpoint: 001161
to stream Main, to step Merge: 003769
to stream Main, to step Curation: 002A65

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Novel Progranulin Mutation : Screening for PGRN Mutations in a Portuguese Series of FTD/CBS Cases</title>
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<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
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<s2>London</s2>
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<sZ>4 aut.</sZ>
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<series><title level="j" type="main">Movement disorders</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Frontotemporal dementia</term>
<term>Medical screening</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
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</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Démence frontotemporale</term>
<term>Pathologie du   système nerveux</term>
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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.</div>
</front>
</TEI>
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</country>
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<settlement><li>Londres</li>
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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)
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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

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