语义变异型原发性进行性失语症，携带 ANXA11 基因 p.Asp40Gly 致病性变异。
Semantic variant primary progressive aphasia with a pathogenic variant p.Asp40Gly in the ANXA11 gene.
机构信息
Department of Neurology, Pusan National University Hospital, Pusan National University School of Medicine and Medical Research Institute, Busan, Korea.
Department of Neurology, Ajou University School of Medicine, Suwon, Korea.
出版信息
Eur J Neurol. 2022 Oct;29(10):3124-3126. doi: 10.1111/ene.15455.
PMID:36073198
Abstract
We report a patient with right-predominant semantic variant primary progressive aphsia linked with p.Asp40Gly variant of ANXA11, which is the first description of frontotemporal dementia without clinical and electrophysiological evidences of amyotrophic lateral sclerosis associated with a known pathogenic variant of ANXA11.
摘要
我们报告了一例右侧优势语义变异型原发性进行性失语症患者，该患者与 ANXA11 的 p.Asp40Gly 变异相关，这是首例描述额颞叶痴呆的病例，无肌萎缩侧索硬化的临床和电生理证据，与已知的 ANXA11 致病变异相关。
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