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通过下一代测序和功能性酶测试来诊断晚发性Tay-Sachs:从基因到酶

Ajay R Tupil¹, Warwick Rivlin¹, Pamela A Mccombe¹

¹From the School of Medicine (A.R.T., J.R.), The University of Queensland; Department of Neurology (W.R., P.A.M., R.D.H., L.V.), Royal Brisbane & Women's Hospital; The University of Queensland (P.A.M., R.D.H., L.V.), UQ Centre for Clinical Research; and Genetic Health Queensland (J.R.), Royal Brisbane & Women's Hospital, Brisbane, Queensland, Australia.

Neurology. Genetics

|January 14, 2025

概括

晚期发病的泰-萨克斯病 (LOTS) 可以呈现出逐渐减弱和缺氧. 诊断包括对HEXA基因和功能性酶试验的基因测试,即使在成年人中也是如此.

科学领域:

神经遗传学神经遗传学
生物化学生物化学

背景情况:

泰-萨克斯病是一种罕见的神经退行性疾病,通常在婴儿期出现.
成人发病的形式,如晚发病的Tay-Sachs (LOTS),不太常见,并且可能被误诊.
在HEXA基因的致病变异导致缺陷的β-hexosaminidase活动,导致团结体积累.

研究的目的:

报告两个成年人Tay-Sachs病例.
突出诊断挑战和方法,以晚期发病的演示.
强调基因和酶测试在确认LOTS.的作用.

主要方法:

两名成年患者出现神经和神经精神症状的病例报告.
对HEXA基因进行基因分析,以识别致病变体.
功能性酶检测测量测量β-hexosaminidase活动.

主要成果:

两位患者都表现出不同HEXA基因变异的复合异构性.
一名患者在基因检测后显示胺酶活性降低.
另一位患者在基因确认之前接受了酶测试.
这两种病例都呈现出渐进的虚弱,无氧和神经精神症状.

结论:

晚期发病的泰-萨克斯病可以在成年期表现为各种神经症状.
基因和功能性酶测试的结合对于诊断LOTS至关重要.
早期诊断和干预可能是通过识别这些替代陈述来实现的.

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