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

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 o...

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Bibliographic Details
Published in:Movement disorders 2008-07, Vol.23 (9), p.1269-1273
Main Authors: Guerreiro, Rita Joao, Santana, Isabel, Bras, Jose Miguel, Revesz, Tamas, Rebelo, Olinda, Ribeiro, Maria Helena, Santiago, Beatriz, Oliveira, Catarina Resende, Singleton, Andrew, Hardy, John
Format: Article
Language:English
Subjects:
Biological and medical sciences
corticobasal syndrome
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Dementia - genetics
Dementia - metabolism
DNA Mutational Analysis
DNA-Binding Proteins - metabolism
Family Health
Female
frontotemporal dementia
Humans
Intercellular Signaling Peptides and Proteins - genetics
Male
Medical sciences
Middle Aged
Mutation - genetics
Neurology
Portugal - epidemiology
Portuguese population
progranulin
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Summary: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
ISSN:0885-3185
1531-8257
DOI:10.1002/mds.22078