Article
GRN deletion in familial frontotemporal dementia showing association with clinical variability in 3 familial cases.
Neurobiology of aging - 1 May 2017
Milan Graziella, Napoletano Sabrina, Pappatà Sabina, Gentile Maria Teresa, Colucci-D'Amato Luca, Della Rocca Gennaro, Maciag Anna, Rossetti Carmen Palermo, Fucci Laura, Puca Annibale, Grossi Dario, Postiglione Alfredo, Vitale Emilia
Abstract excerpt
Progranulin (GRN) gene mutations have been genetically associated with frontotemporal dementia (FTD) and are present in about 23% of patients with familial FTD. However, the neurobiology of this secreted glycoprotein remains unclear. Here, we report the identification of 3 pedigrees of Southern Italian extraction in whom FTD segregates with autosomal dominant inheritance patterns. We present evidence that all the...
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