The Leukodystrophies
The Leukodystrophies
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DOI：
10.1055/s-0034-1386769
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发表时间：
2014-07-01
影响因子：
2.7
通讯作者：
Bonkowsky, Joshua L.
中科院分区：
文献类型：
--
作者：
Gordon, Hannah B.;Letsou, Anthea;Bonkowsky, Joshua L.
脑白质营养不良是一组影响中枢神经系统髓鞘发育或维持的遗传决定性疾病。脑白质营养不良的报告发病率为1/7500活产，但只有不到一半的患者接受了特定的诊断。在这篇综述中，作者讨论了脑白质营养不良的类型：其患病率，临床表现，症状和诊断，以及目前和未来的治疗。诊断基于病史、检查、放射学和实验室检查结果，包括基因检测。脑白质营养不良可以出现在从婴儿到成年的任何年龄，疾病进展和临床表现具有变异性，从发育迟缓到癫痫发作再到痉挛。虽然治愈的方法很少，但在护理和改善患者福祉方面有很大的机会。他们的高患病率，结合成像，遗传学和潜在的治疗方法的快速进步，使在遗传学和神经病学的护理提供者必要的脑白质营养不良的理解。
Leukodystrophies are a group of genetically determined disorders that affect development or maintenance of central nervous system myelin. Leukodystrophies have a reported incidence of 1 in 7500 live births, but fewer than half of patients receive a specific diagnosis. In this review, the authors discuss types of leukodystrophies: their prevalence, clinical Presentation, symptoms, and diagnosis, as well as current and future Treatments. Diagnosis is based on a combination of history, exam, radiological, and laboratory findings, including genetic testing. Leukodystrophies can present at any age from infancy to adulthood, with variability in disease progression and clinical presentation, ranging from developmental delay to seizures to spasticity. Although there are few cures, there are significant opportunities for care and improvements in patient well-being. Their high prevalence, combined with rapid advances in imaging, genetics, and potential treatments, makes an understanding of the leukodystrophies necessary for care providers in genetics and neurology.