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Open Access Green as soon as Postprint is submitted to ZB.
A novel deletion in progranulin gene is associated with FTDP-17 and CBS.
Neurobiol. Aging 29, 427-435 (2008)
In the last decade familial frontotemporal dementia (FFTD) has emerged as a distinct clinical disease entity characterized by clinical and genetic heterogeneity. Here, we provide an extensive clinical and genetic characterization of two Italian pedigrees presenting with FFTD (FAM047: 5 patients, 5 unaffected; FAM071: 4 patients, 11 unaffected). Genetic analysis showed a conclusive linkage (LOD score for D17S791/D17S951: 4.173) to chromosome 17 and defined a candidate region containing MAPT and PGRN genes. Recombination analysis assigned two different disease haplotypes to FAM047 and FAM071. In affected subjects belonging to both families, we identified a novel 4 bp deletion mutation in exon 7 of PGRN gene (Leu271LeufsX10) associated with a variable clinical presentation ranging from FTDP-17 to corticobasal syndrome. The age-related penetrance was gender dependent. Both mutations in MAPT and PGRN genes are associated with highly variable clinical phenotypes. Despite the profound differences in the biological functions of the encoded proteins, it is not possible to define a clinical phenotype distinguishing the disease caused by mutations in MAPT and PGRN genes.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Frontotemporal dementia; Corticobasal syndrome; Linkage analysis; PGRN; Mutation; Genotype–phenotype correlation
Language
english
Publication Year
2008
HGF-reported in Year
0
ISSN (print) / ISBN
0197-4580
e-ISSN
1558-1497
Journal
Neurobiology of Aging
Quellenangaben
Volume: 29,
Issue: 3,
Pages: 427-435
Publisher
Elsevier
Publishing Place
New York, NY [u.a.]
Reviewing status
Peer reviewed
Institute(s)
Institute of Human Genetics (IHG)
POF-Topic(s)
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s)
Genetics and Epidemiology
PSP Element(s)
G-500700-001
Erfassungsdatum
2008-10-21