肾上腺脑白质营养不良：关于神经变性病的新探讨
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| 发布日期: 2006-01-09 23:42 | 文章来源: 丁香园神经科学专业讨论版 |
关键词:
肾上腺脑白质营养不良
神经变性病
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Adrenoleukodystrophy
New Approaches to a Neurodegenerative Disease
Hugo W. Moser, MD; Gerald V. Raymond, MD; Prachi Dubey, MD, MPH
JAMA. 2005;294:3131-3134.
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 proactive approaches to this distressing disorder.
Author Affliations: Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Md.
肾上腺脑白质营养不良：关于神经变性病的新探讨
X连锁遗传的肾上腺脑白质营养不良 (X-ALD)最先在1923年报道，直到1976年才认识到是仅累及男孩的致命性神经变性病。现在已经确认了其遗传缺陷和生化异常。正在进行的研究有以下新发现： (1) 表型表达差异较大。至少1半的X-ALD为成年病人，表现较轻，而作为携带者的女性也可发病。X-ALD在男孩常误诊为注意缺陷/多动综合征，男女可误诊为多发性硬化，并且也是Addison病的病因； (2)据估计X-ALD发病率为1:17 000，类似于 苯丙酮尿症；(3)可进行无创性、症状前诊断和产前诊断；家系筛查和遗传咨询是疾病预防的关键； (4)早期采用新的治疗方法非常具有前景。新生儿筛查正在成为可行，对X-ALD的广泛关注和其临床表现的多种类型的认识有助于采取新的措施。
New Approaches to a Neurodegenerative Disease
Hugo W. Moser, MD; Gerald V. Raymond, MD; Prachi Dubey, MD, MPH
JAMA. 2005;294:3131-3134.
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 proactive approaches to this distressing disorder.
Author Affliations: Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Md.
肾上腺脑白质营养不良：关于神经变性病的新探讨
X连锁遗传的肾上腺脑白质营养不良 (X-ALD)最先在1923年报道，直到1976年才认识到是仅累及男孩的致命性神经变性病。现在已经确认了其遗传缺陷和生化异常。正在进行的研究有以下新发现： (1) 表型表达差异较大。至少1半的X-ALD为成年病人，表现较轻，而作为携带者的女性也可发病。X-ALD在男孩常误诊为注意缺陷/多动综合征，男女可误诊为多发性硬化，并且也是Addison病的病因； (2)据估计X-ALD发病率为1:17 000，类似于 苯丙酮尿症；(3)可进行无创性、症状前诊断和产前诊断；家系筛查和遗传咨询是疾病预防的关键； (4)早期采用新的治疗方法非常具有前景。新生儿筛查正在成为可行，对X-ALD的广泛关注和其临床表现的多种类型的认识有助于采取新的措施。
作者: shenren 编译
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