Natural history of X-linked adrenoleukodystrophy in Japan
Natural history of X-linked adrenoleukodystrophy in Japan
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DOI：
10.1016/j.braindev.2004.09.008
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发表时间：
2005-08-01
影响因子：
1.7
通讯作者：
Tsuji, S
中科院分区：
文献类型：
--
作者：
Suzuki, Y;Takemoto, Y;Tsuji, S
采用全国范围的回顾性研究，对X连锁肾上腺脑白质营养不良（ALD）的自然史进行了调查。本文分析了145例患者的资料，其中儿童型46例，肾上腺脊髓神经病（AMN）39例，成人型33例，青少年型14例，橄榄桥脑小脑型（OPC）13例。儿童期脑型以智力障碍（n=16）和视觉障碍（n = 11）为首发症状，而AMN以步态障碍（n = 37）和感觉障碍（n = 3）为首发症状，成人期脑型以精神障碍（n= 19）和步态障碍（n = 11）为首发症状，青少年期脑型以视觉障碍（n = 5）和步态障碍（n = 4）为首发症状。OPC形式为步态障碍（n = 9）。8岁以下发病的患者比8岁以上的患者进展更快。视力、听力、步态和吞咽障碍在老年组中进展较慢。大约一半的AMN患者在发病后10年左右出现脑受累。OPC形式的患者也显示出类似的进展。Kaplan-Meier曲线阐明了每种表型中神经系统症状进展的特征模式。这些发现将提高对X-连锁ALD自然史的理解，并将为X-连锁ALD的特异性治疗提供评估依据。(c)2004 Elsevier B. V.保留所有权利。
The natural history of X-linked adrenoleukodystrophy (ALD) was investigated, using a nation-wide retrospective study based on a questionnaire survey. The data on 145 patients, including 46 patients with the childhood cerebral form, 39 with adrenomyeloneuropathy (AMN), 33 with the adult cerebral form, 14 with the adolescent form and 13 with the olivo-ponto-cerebellar (OPC) form, were analyzed. Initial symptoms of the childhood cerebral form were intellectual (n=16) and visual (n = 11) disturbances, whereas those of AMN were gait (n = 37) and sensory (n = 3) disturbances; the adult cerebral form, psychic (n= 19) and gait (n = 11)disturbances; the adolescent form, visual n = 5) and gait (n = 4) disturbances; and the OPC form, gait (n = 9) disturbance. Patients with onset under the age of 8 years progressed more rapidly than those over 8 years old. Visual, hearing, gait and swallowing disturbances progressed more slowly in the older group. About half of AMN patients showed cerebral involvement about 10 years after onset. Patients with the OPC form also showed a similar progression. A Kaplan-Meier plot clarified the characteristic pattern of progression of neurological symptoms in each phenotype. These finding will improve the understanding of the natural history of X-linked ALD and will provide a basis for the evaluation of specific treatment for X-linked ALD. (c) 2004 Elsevier B.V. All rights reserved.