Please use this identifier to cite or link to this item:
|Title:||Progranulin mutation analysis: Identification of one novel mutation in exon 12 associated with frontotemporal dementia|
|Keywords:||Geriatrics & Gerontology; Neurosciences & Neurology|
|Publisher:||NEUROBIOLOGY OF AGING|
|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.|
|Appears in Collections:||Journal Articles|
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.