Deutsch Eric C, Seyer Lauren A, Perlman Susan L, Yu Jeanette, Lynch David R
Department of Pharmacology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.
J Child Neurol. 2012 Sep;27(9):1159-63. doi: 10.1177/0883073812448460. Epub 2012 Jun 29.
Friedreich ataxia is an autosomal recessive neurodegenerative disorder caused by mutations in the FXN gene that result in abnormally low levels of the mitochondrial protein frataxin. The authors recently used a lateral flow immunoassay to measure frataxin levels in a large cohort of controls, carriers, and patients with the condition. The findings show that frataxin levels do not appreciably change over time and correlate well with GAA(1) repeat length and age of onset; thus, frataxin is a reliable and stable marker for severity of disease. In this article, the authors present a patient diagnosed as having Friedreich ataxia and osteosarcoma who received combined methotrexate, doxorubicin (Adriamycin), and cisplatin (MAP) chemotherapy over 8 months. The authors assessed the effect of treatment on frataxin levels, blood cell counts, and clinical markers of cardiomyopathy. Results of the regimen and the use of MAP chemotherapy for treatment of neoplasms in individuals with Friedreich ataxia are discussed.
弗里德赖希共济失调是一种常染色体隐性神经退行性疾病，由FXN基因突变引起，该突变导致线粒体蛋白frataxin水平异常降低。作者最近使用侧向流动免疫分析法测量了一大组对照者、携带者和患有该疾病患者体内的frataxin水平。研究结果表明，frataxin水平不会随时间显著变化，并且与GAA(1)重复长度和发病年龄密切相关；因此，frataxin是疾病严重程度的可靠且稳定的标志物。在本文中，作者介绍了一名被诊断患有弗里德赖希共济失调和骨肉瘤的患者，该患者在8个月内接受了甲氨蝶呤、阿霉素（多柔比星）和顺铂（MAP）联合化疗。作者评估了治疗对frataxin水平、血细胞计数和心肌病临床标志物的影响。讨论了该治疗方案以及MAP化疗在弗里德赖希共济失调患者肿瘤治疗中的应用结果。
