由粒蛋白前基因突变引起的家族性额颞叶痴呆1例

IF 1.8 Q3 CLINICAL NEUROLOGY Clinical Parkinsonism Related Disorders Pub Date : 2023-01-01 Epub Date: 2023-08-06 DOI:10.1016/j.prdoa.2023.100213

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

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引用次数: 1

摘要

阿尔茨海默病之后，额颞叶痴呆（FTD）是早发性痴呆最常见的病因。在家族性FTD中已经发现了几种基因突变，前颗粒蛋白（GRN）突变约占家族性FTD病例的20-25%，约占FTD总病例的10%。我们报告了一例患有非典型帕金森病的家族性FTD患者，该患者被发现患有GRN额颞叶痴呆（GRN-FTD），具有致病性剪接位点突变（c.709-2A>；G），并且家族成员之间存在显著的表型异质性。

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

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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