volume 27, issue 4, P791-797 2011
DOI: 10.3233/jad-2011-110788
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Chiara Cerami, Alessandra Marcone, Daniela Galimberti, Chiara Villa, Elio Scarpini, Stefano F. Cappa

Abstract: Frontotemporal lobar degeneration (FTLD) is a common early-onset dementia, which shows highly heterogeneous phenotypic presentations. Although an autosomal dominant transmission can be found only in about 10% cases, familial aggregation is frequently observed in FTLD. Recently, the progranulin gene (GRN) was reported to be involved in the disease pathogenesis. We describe two clinically different, apparently sporadic FTLD cases, sharing the previously described GRN mutation g.11019_11022delCACT (relative to nt…

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