A case of familial frontotemporal dementia caused by a progranulin gene mutation
Currens, Lauryn Harrison, Nigel Schmidt, Maria Amjad, Halima Mu, Weiyi Scholz, Sonja W Bang, Jee Pantelyat, Alexander
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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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Currens L, Harrison N, Schmidt M, Amjad H, Mu W, Scholz SW, Bang J, Pantelyat A. A case of familial frontotemporal dementia caused by a progranulin gene mutation. Clin Park Relat Disord. 2023 Aug 6;9:100213. doi: 10.1016/j.prdoa.2023.100213. PMID: 37583427; PMCID: PMC10424124.