Source:http://linkedlifedata.com/resource/pubmed/id/18392865
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
2008-6-27
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| pubmed:abstractText |
Frontotemporal lobar degeneration (FTLD) recognises high familial incidence, with up to 50% of patients reported to have a family history of similar dementia. It has been reported that mutations within progranulin (PGRN) gene are a major cause of FTLD in the USA and worldwide, counting for 5-10% of FTLD and for 20-25% of familiar FTLD cases. The aim of the present study was to define the role of PGRN genetic variations in a large sample of consecutive patients with FTLD in Italy. Two-hundred forty-three FTLD patients were investigated. Each subject performed a clinical and neuropsychological evaluation, a functional and structural brain imaging, and the diagnosis was confirmed by at least 1 year follow-up. PGRN sequencing was performed in all FTLD patients and in 121 healthy age-matched controls drawn from the same geographic area. Only one PGRN pathogenetic mutation was found, consisting of a four-base pair deletion in the coding sequence of exon 8 (delCACT). This mutation was recognised in four patients, being the overall frequency of mutations in our clinical series of 1.64%. Considering only patients with a well-known family history for dementia, the frequency of this mutation was 6%. Moreover, four missense mutations within intron regions (g.100474G>A, g.100674G>A, g.101266G>A, g.102070G>A) were found. The frequency of these genetic variations did not differ in patients compared to controls, and they did not influence on clinical FTLD phenotype. In conclusion, this study supports a lower frequency of PGRN mutations amongst FTLD patients in Italy compared to literature data and further underlies the genetic heterogeneity of FTLD.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jul
|
| pubmed:issn |
1364-6753
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| pubmed:author |
pubmed-author:AgostiChiaraC,
pubmed-author:AlbericiAntonellaA,
pubmed-author:ArchettiSilvanaS,
pubmed-author:BellelliGiuseppeG,
pubmed-author:BigniBarbaraB,
pubmed-author:BonviciniCristianC,
pubmed-author:BorroniBarbaraB,
pubmed-author:CaimiLuigiL,
pubmed-author:CaltagironeCarloC,
pubmed-author:Di LorenzoDiegoD,
pubmed-author:Di LucaMonicaM,
pubmed-author:FerrariMariaM,
pubmed-author:GalimbertiDanielaD,
pubmed-author:GennarelliMassimoM,
pubmed-author:PadovaniAlessandroA,
pubmed-author:ScarpiniElioE
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| pubmed:issnType |
Electronic
|
| pubmed:volume |
9
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
197-205
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| pubmed:meshHeading |
pubmed-meshheading:18392865-Aged,
pubmed-meshheading:18392865-Base Sequence,
pubmed-meshheading:18392865-Case-Control Studies,
pubmed-meshheading:18392865-DNA Primers,
pubmed-meshheading:18392865-Dementia,
pubmed-meshheading:18392865-Exons,
pubmed-meshheading:18392865-Female,
pubmed-meshheading:18392865-Frameshift Mutation,
pubmed-meshheading:18392865-Gene Frequency,
pubmed-meshheading:18392865-Genetic Variation,
pubmed-meshheading:18392865-Humans,
pubmed-meshheading:18392865-Intercellular Signaling Peptides and Proteins,
pubmed-meshheading:18392865-Introns,
pubmed-meshheading:18392865-Italy,
pubmed-meshheading:18392865-Male,
pubmed-meshheading:18392865-Middle Aged,
pubmed-meshheading:18392865-Mutation,
pubmed-meshheading:18392865-Pedigree,
pubmed-meshheading:18392865-Polymorphism, Single Nucleotide,
pubmed-meshheading:18392865-Sequence Deletion
|
| pubmed:year |
2008
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| pubmed:articleTitle |
Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series.
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| pubmed:affiliation |
Department of Neurology, University of Brescia, Brescia, Italy. bborroni@inwind.it
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|