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Evidence for a Common Founder and Clinical Characteristics of Japanese Families with the MAPT R406W Mutation

机译：MAPT R406W突变的日本家庭的共同创始人和临床特征的证据

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Background/Aim: Mutations in MAPT cause frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17). Patients with the MAPT R406W mutation were reported to show phenotypic heterogeneity in different ethnic backgrounds. We here report the clinical and genetic characteristics of Japanese families with the R406W mutation. Methods: We examined the clinical and neuroimaging features of 6 patients from three families with the R406W mutation. We determined the genotypes of intragenic MAPT single-nucleotide polymorphisms (SNPs) and the flanking microsatellite markers to search for a common founder. Results: The initial symptom was memory loss with the average age at onset being 54 years. Anterograde amnesia with episodic memory impairment was the predominant phenotype. Behavioral and personality changes or parkinsonism is not a prominent feature. A brain MRI study revealed marked atrophy of the medial temporal lobe. Genetic analysis of SNPs and microsatellite markers revealed that the affected members of the three families share common genotypes. Conclusion: The findings of the affected members in this study, which corroborate previously reported findings of European families, suggest that the R406W mutation may represent a phenotype of predominant anterograde amnesia in FTLD-17. Our genetic data suggest that a founder effect may account for some families with the R406W mutation.
机译：背景/目的：MAPT基因突变会导致额颞叶痴呆，伴有与17号染色​​体（FTDP-17）相关的帕金森氏症。据报道，MAPT R406W突变患者在不同种族背景下表现出表型异质性。我们在此报告具有R406W突变的日本家庭的临床和遗传特征。方法：我们检查了三个家族中R406W突变的6例患者的临床和神经影像学特征。我们确定了基因内的MAPT单核苷酸多态性（SNPs）的基因型和侧翼微卫星标记，以寻找共同的创始人。结果：最初的症状是记忆力减退，平均发病年龄为54岁。表现性记忆障碍的顺行性失忆是主要表型。行为和性格改变或帕金森症不是主要特征。一项大脑MRI研究显示内侧颞叶明显萎缩。 SNP和微卫星标记的遗传分析表明，这三个家族的受影响成员具有共同的基因型。结论：该研究中受影响成员的发现证实了先前报道的欧洲家庭的发现，表明R406W突变可能代表了FTLD-17中主要的顺行性健忘症的表型。我们的遗传数据表明，创始效应可能解释了一些具有R406W突变的家庭。

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