Adrenoleukodystrophy - New approaches to a neurodegenerative disease
Adrenoleukodystrophy - New approaches to a neurodegenerative disease
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DOI：
10.1001/jama.294.24.3131
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发表时间：
2005-12-28
影响因子：
120.7
通讯作者：
Dubey, P
中科院分区：
文献类型：
--
作者：
Moser, HW;Raymond, GV;Dubey, P
X-连锁肾上腺脑白质营养不良（X-ALD）于1923年首次被描述，直到1976年才被视为一种影响男孩的罕见且致命的神经退行性疾病。遗传缺陷和生化异常现在已经被定义。正在进行的研究有了新的发现：（1）存在广泛的表型表达。至少有一半的X-ALD患者是表现较轻的成年人，携带者的女性可能会出现症状。X-ALD在男性和女性中常被误诊为注意力缺陷多动障碍（ADHD）和多发性硬化（MS），并不是Addison病的罕见病因;（2）X-ALD的发病率在所有种族中估计为1：17000，接近苯丙酮尿症的发病率;（3）X-ALD的无创性和症状前诊断及产前诊断是可行的，家庭筛查和遗传咨询是疾病预防的关键;（4）早期应用的新疗法显示出希望。新生儿筛查可能会变得可用，并且对X-ALD及其各种表现形式的更广泛认识允许对这种令人痛苦的疾病采取新的积极方法。
X-linked adrenoleukodystrophy (X-ALD), which was first described in 1923, was viewed until 1976 as a rare and inexorably fatal neurodegenerative disorder that affected boys. The genetic defect and biochemical abnormalities have now been defined. Ongoing research has resulted in new findings: (1) there is a wide range of phenotypic expression. At least half of patients with X-ALD are adults with somewhat milder manifestations, and women who are carriers may become symptomatic. X-ALD is often misdiagnosed as attention-deficit/hyperactivity disorder in boys and as multiple sclerosis in men and women, and is not an uncommon cause of Addison disease; (2) the incidence of X-ALD, estimated to be 1:17 000 in all ethnic groups, approximates that of phenylketonuria; (3) noninvasive and presymptomatic diagnosis and prenatal diagnosis are available; family screening and genetic counseling are key to disease prevention; and (4) new therapies, applied early, show promise. Neonatal screening is likely to become available, and a wider awareness of X-ALD and its various modes of presentation permit new pro-active approaches to this distressing disorder.