GLUT1缺乏症中成人发病的非运动源性阵发性运动障碍

IF 3.4 3区医学 Q2 CLINICAL NEUROLOGY

Parkinsonism & related disorders Pub Date : 2025-08-28 DOI:10.1016/j.parkreldis.2025.108011

José Miguel Alves , Rita Machado , Maria Carmo Macário , João Durães

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引用次数: 0

摘要

葡萄糖转运蛋白1型缺乏综合征（GLUT1DS）是一种由SLC2A1基因变异引起的疾病。临床特征是异质的，从经典的表现到较轻的后发表型。我们描述了一例患有轻度GLUT1DS （NM_006516.4 c.998G > a, p. Arg333Gln）的成人发作性阵发性运动障碍的男性患者。

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Adult-onset non-kinesigenic paroxysmal dyskinesia in GLUT1 deficiency syndrome

Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a disorder caused by variants in the SLC2A1 gene. Clinical features are heterogeneous, from the classic presentation to milder later-onset phenotypes. We describe the case of a male patient with adult-onset paroxysmal dyskinesia in a mild phenotype of GLUT1DS (NM_006516.4 c.998G > A, p. Arg333Gln).

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来源期刊

Parkinsonism & related disorders 医学-临床神经学

CiteScore

6.20

自引率

4.90%

发文量

292

审稿时长

39 days

期刊介绍： Parkinsonism & Related Disorders publishes the results of basic and clinical research contributing to the understanding, diagnosis and treatment of all neurodegenerative syndromes in which Parkinsonism, Essential Tremor or related movement disorders may be a feature. Regular features will include: Review Articles, Point of View articles, Full-length Articles, Short Communications, Case Reports and Letter to the Editor.