A case of familial frontotemporal dementia caused by a progranulin gene mutation

Lauryn Currens; Nigel Harrison; Maria Schmidt; Halima Amjad; Weiyi Mu; Sonja W Scholz; Jee Bang; Alexander Pantelyat

doi:10.1016/j.prdoa.2023.100213

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. eCollection 2023.

Authors

Lauryn Currens¹, Nigel Harrison², Maria Schmidt², Halima Amjad³, Weiyi Mu⁴, Sonja W Scholz^{2

5}, Jee Bang², Alexander Pantelyat²

Affiliations

¹ Department of Neurology, University of Massachusetts Chan Medical School, 55 N Lake Ave, Worcester, MA 01655, USA.
² Department of Neurology, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, MD 21287, USA.
³ Division of Geriatric Medicine and Gerontology, Department of Medicine, Johns Hopkins University School of Medicine, 5200 Eastern Avenue, Baltimore, MD 21224, USA.
⁴ Department of Genetic Medicine, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, MD 21287, USA.
⁵ Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, 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.

Keywords: FTD; Frontotemporal dementia; Phenotypic heterogeneity; Progranulin, GRN.

Publication types

Case Reports

Grants and funding

K23 AG064036/AG/NIA NIH HHS/United States