伴有甲胎蛋白升高的进行性共济失调：诊断问题及文献综述
Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature.
作者信息
Paucar Martin, Taylor Alexander M R, Hadjivassiliou Marios, Fogel Brent L, Svenningsson Per
机构信息
Department of Neurology, Karolinska University Hospital, Stockholm, SE.
Department of Clinical Neuroscience, Karolinska Institute, Stockholm, SE.
出版信息
Tremor Other Hyperkinet Mov (N Y). 2019 Oct 10;9. doi: 10.7916/tohm.v0.708. eCollection 2019.
BACKGROUND
Ataxias represent a challenging group of disorders due to significant clinical overlap. Here, we present a patient with early-onset progressive ataxia, polyneuropathy and discuss how elevation of alpha fetoprotein (AFP) narrows the differential diagnosis.
CASE REPORT
Ataxia, polyneuropathy, and mild elevation of AFP are features compatible with ataxia with oculomotor apraxia type 2 (AOA2) but also with ataxia with oculomotor apraxia type 4 (AOA4). A genetic analysis demonstrated biallelic mutations in senataxin (), confirming the diagnosis of AOA2.
DISCUSSION
Mild elevation of AFP is found in patients with AOA2 and AOA4, and higher levels are commonly seen in ataxia-telangiectasia. AFP is a useful diagnostic tool but not a biomarker for disease progression in AOA2.
背景
共济失调是一组具有挑战性的疾病，因为临床症状有显著重叠。在此，我们报告一名早发性进行性共济失调、多发性神经病患者，并讨论甲胎蛋白（AFP）升高如何缩小鉴别诊断范围。
病例报告
共济失调、多发性神经病和AFP轻度升高是与2型动眼神经失用性共济失调（AOA2）相符的特征，但也与4型动眼神经失用性共济失调（AOA4）相符。基因分析显示senataxin基因双等位基因突变，确诊为AOA2。
讨论
AOA2和AOA4患者中可发现AFP轻度升高，而共济失调毛细血管扩张症患者中通常可见更高水平AFP。AFP是一种有用的诊断工具，但不是AOA2疾病进展的生物标志物。
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