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Title: Progranulin mutation analysis: Identification of one novel mutation in exon 12 associated with frontotemporal dementia
Authors: Aswathy, PM
Jairani, PS
Raghavan, SK
Verghese, J
Gopala, S
Srinivas, P
Mathuranath, PS
Keywords: Geriatrics & Gerontology; Neurosciences & Neurology
Issue Date: 2016
Citation: 39 ,;-
Abstract: Progranulin (PGRN) mutations account for an average of 15% of familial frontotemporal dementia (FTD) cases and 20% of total FTD cases worldwide. Here, we investigated the frequency of PGRN mutations in FTD patients (n = 116) from a clinical cohort of south India and detected one novel mutation located on exon 12 in a familial behavioral variant FTD patient (accounting for similar to 1% of total FTD cases and 6% of familial FTD cases). This mutation was found to introduce a premature termination codon and the prematurely terminated messenger RNA may probably undergo nonsense-mediated decay. In enzyme-linked immunosorbent assay, the proband showed significantly reduced level of plasma PGRN (28 ng/mL) compared with controls (150 +/- 38 ng/mL), which implicates haploinsufficiency as the pathogenic mechanism. (C) 2016 Elsevier Inc. All rights reserved.
URI: 10.1016/j.neurobiolaging.2015.11.026
Appears in Collections:Journal Articles

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