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Title:

A novel deletion in progranulin gene is associated with FTDP-17 and CBS.

Document type:
Journal Article; Article
Author(s):
Benussi, L; Binetti, G; Sina, E; Gigola, L; Bettecken, T; Meitinger, T; Ghidoni, R
Abstract:
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...     »
Journal title abbreviation:
Neurobiol Aging
Year:
2008
Journal volume:
29
Journal issue:
3
Pages contribution:
427-35
Language:
eng
Fulltext / DOI:
doi:10.1016/j.neurobiolaging.2006.10.028
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/17157414
Print-ISSN:
0197-4580
TUM Institution:
Institut für Humangenetik
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