成人发病的亚历山大病,脑干和带增强病变
Daniel Alves de Oliveira1, Luziany Carvalho Araújo2, Anderson Rodrigues Brandão de Paiva3,4
1Department of Neurology, Hospital das Clínicas UFPE / EBSERH, Recife, Brazil daniel_oliveira_@live.com.
Practical neurology
|July 20, 2023
概括
亚历山大病是一种罕见的遗传性白血病,在一名27岁的年轻人身上被诊断出患有进展性神经衰退. 基因检测发现了GFAP基因变异,证实了诊断.
科学领域:
- 神经遗传学 神经遗传学
- 神经学 神经学
- 白质障碍 白质障碍 白质障碍
背景情况:
- 白血病包括影响中枢神经系统白质的遗传疾病.
- 临床表现各不相同,但白质参与是标志性的.
- 早期诊断对于管理渐进性神经疾病至关重要.
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