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.
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页数：4
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