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

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

School of Medicine

Research output: Contribution to journal › Article › peer-review

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.

Original language	English (US)
Article number	100213
Journal	Clinical Parkinsonism and Related Disorders
Volume	9
DOIs	https://doi.org/10.1016/j.prdoa.2023.100213
State	Published - Jan 2023

Keywords

Frontotemporal dementia
FTD
Phenotypic heterogeneity
Progranulin, GRN

ASJC Scopus subject areas

Clinical Neurology
Cellular and Molecular Neuroscience

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10.1016/j.prdoa.2023.100213

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title = "A case of familial frontotemporal dementia caused by a progranulin gene mutation",

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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AU - Currens, Lauryn

AU - Harrison, Nigel

AU - Schmidt, Maria

AU - Amjad, Halima

AU - Mu, Weiyi

AU - Scholz, Sonja W.

AU - Bang, Jee

AU - Pantelyat, Alexander

PY - 2023/1

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N2 - 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.

AB - 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.

KW - Frontotemporal dementia

KW - FTD

KW - Phenotypic heterogeneity

KW - Progranulin, GRN

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

Abstract

Keywords

ASJC Scopus subject areas

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