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- W4385611429 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." @default.
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- W4385611429 date "2023-01-01" @default.
- W4385611429 modified "2023-10-16" @default.
- W4385611429 title "A case of familial frontotemporal dementia caused by a progranulin gene mutation" @default.
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- W4385611429 doi "https://doi.org/10.1016/j.prdoa.2023.100213" @default.
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