A case of familial frontotemporal dementia caused by a progranulin gene mutation
oleh: Lauryn Currens, Nigel Harrison, Maria Schmidt, Halima Amjad, Weiyi Mu, Sonja W. Scholz, Jee Bang, Alexander Pantelyat
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2023-01-01 |
Deskripsi
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.