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Updated: Jul 19, 2025

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Published on: February 25, 2014
A case of familial frontotemporal dementia caused by a progranulin gene mutation
Lauryn Currens1, Nigel Harrison2, Maria Schmidt2
1Department of Neurology, University of Massachusetts Chan Medical School, 55 N Lake Ave, Worcester, MA 01655, USA.
Abstract:
After Alzheimer's disease, Frontotemporal dementia (FTD) is the most common cause of early-onset dementia. Several genetic mutations have been identified in familial FTD, with mutations in progranulin (GRN) accounting for approximately 20-25% of familial FTD cases and about 10% of total FTD cases. We report the case of a familial FTD patient with atypical parkinsonism who was found to have GRN frontotemporal dementia (GRN-FTD) with a pathogenic splice site mutation (c.709-2A > G) and notable phenotypic heterogeneity among family members.
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