The MAPT p.P301L mutation presents as a rare early-onset corticobasal syndrome: A case report

Author:

Li Cheng-Hsuan,Lee Ni-Chung,Lin Kun-Ju,Hsiao Ing-Tsung,Weng Yi-Hsin,Lin Chin-Hsien

Abstract

Corticobasal syndrome (CBS) is an uncommon movement disorder with a heterogeneous clinical presentation. CBS is generally recognized as a sporadic disorder, although rare familial and isolated genetic cases have been reported among Westerners. We describe a 49-year-old Taiwanese woman that presented with a three-year history of progressive right-hand dystonia, akinetic-rigidity, ideomotor apraxia, and slowness of gait. Her family history included autosomal-dominant parkinsonism with cognitive decline. A genetic analysis revealed a pathogenic heterozygous missense variant, c.902C>T (p.P301L), on exon 10 of the MAPT gene. The antemortem diagnosis of CBS was supported by clinical, structural, brain glucose metabolism, and tau protein molecular positron emission tomography imaging data. These findings expanded the phenotypic spectrum of the MAPT p.P301L mutation. A literature review illustrated the genetic pleiotropy of MAPT mutations in tau-related neurodegenerative disorders. This study was the first to describe a patient in an Asian family with a MAPT mutation that presented as young-onset CBS. Our findings demonstrated the heterogenous phenotypic spectrum of this rare genetic variant. MAPT mutations should be considered in patients with early-onset or familial CBS in the Asian population.

Publisher

ASEAN Neurological Association

Subject

Neurology (clinical),Neurology

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3