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

被引：1

作者：

Currens, Lauryn ^{[1
,6
]}

Harrison, Nigel ^{[2
]}

Schmidt, Maria ^{[2
]}

Amjad, Halima ^{[3
]}

Mu, Weiyi ^{[4
]}

Scholz, Sonja W. ^{[2
,5
]}

Bang, Jee ^{[2
]}

Pantelyat, Alexander ^{[2
]}

机构：

[1] Univ Massachusetts, Chan Med Sch, Dept Neurol, 55 N Lake Ave, Worcester, MA 01655 USA

[2] Johns Hopkins Univ, Dept Neurol, Sch Med, 600 North Wolfe St, Baltimore, MD 21287 USA

[3] Johns Hopkins Univ, Dept Med, Div Geriatr Med & Gerontol, Sch Med, 5200 Eastern Ave, Baltimore, MD 21224 USA

[4] Johns Hopkins Univ, Dept Genet Med, Sch Med, 600 North Wolfe St, Baltimore, MD 21287 USA

[5] Natl Inst Neurol Disorders & Stroke, Neurodegenerat Dis Res Unit, Bethesda, MD 20892 USA

[6] Johns Hopkins Univ, Dept Neurol, Sch Med, Baltimore, MD 21218 USA

来源：

CLINICAL PARKINSONISM & RELATED DISORDERS | 2023年 / 9卷

基金：

美国国家卫生研究院;

关键词：

Frontotemporal dementia; FTD; Progranulin; GRN; Phenotypic heterogeneity; TAU;

D O I：

10.1016/j.prdoa.2023.100213

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 (GRNFTD) with a pathogenic splice site mutation (c.709-2A > G) and notable phenotypic heterogeneity among family members.

引用

页数：4

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