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GRN deletion in familial frontotemporal dementia showing association with clinical variability in 3 familial cases.

Abstract：

: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 available patients in these 3 familial cases are carrying the rare GRN gene exon 6 deletion g10325_10331delCTGCTGT (relative to nt 1 inNG_007886.1), alias Cys157LysfsX97. This mutation was previously described in 2 sporadic cases but was never associated with familial cases. Our patients demonstrate heterogeneous clinical phenotypes, such as the behavioral variant (bvFTD) in the affected men and the nonfluent/agrammatic variant of primary progressive aphasia (nfvPPA) in the affected woman. Haploinsufficiency was revealed by both quantitative real-time PCR of the gene and protein analyses. These findings provide further support for a previously proposed role for the GRN gene in the genetic etiology of FTD and its phenotypic variability.

journal_name

Neurobiol Aging

journal_title

Neurobiology of aging

authors

Milan G,Napoletano S,Pappatà S,Gentile MT,Colucci-D'Amato L,Della Rocca G,Maciag A,Rossetti CP,Fucci L,Puca A,Grossi D,Postiglione A,Vitale E

doi

10.1016/j.neurobiolaging.2016.12.030

subject

Has Abstract

pub_date

2017-05-01 00:00:00

pages

193.e9-193.e16

eissn

0197-4580

issn

1558-1497

pii

S0197-4580(17)30003-9

journal_volume

53

pub_type

杂志文章

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