成人发病亚历山大病的外部喉震:一个病例报告
José Gazulla1, Ana Rodríguez-Valle2, Leonor María Calatayud-Lallana3
1Department of Neurology, Hospital Universitario Miguel Servet. Isabel la Católica, Zaragoza, Spain.
Case reports in neurology
|July 17, 2024
概括
这项研究报告了一个罕见的成人发病亚历山大病 (AOAxD) 病例,呈现出外部喉震. 这些发现突出了与特定的GFAP基因突变相关的轻微表型,扩大了对AOAxD症状的理解.
科学领域:
- 神经遗传学 神经遗传学
- 神经学 神经学
背景情况:
- 亚历山大病是一种罕见的遗传神经疾病,由质纤维酸蛋白 (GFAP) 基因的突变引起.
- 成人发病的亚历山大病 (AOAxD) 通常表现为一系列的神经症状,但以前没有报告过外部喉震.
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