NEUROLOGICAL DISEASE IN XERODERMA-PIGMENTOSUM - DOCUMENTATION OF A LATE ONSET TYPE OF THE JUVENILE ONSET FORM
NEUROLOGICAL DISEASE IN XERODERMA-PIGMENTOSUM - DOCUMENTATION OF A LATE ONSET TYPE OF THE JUVENILE ONSET FORM
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DOI：
10.1093/brain/114.3.1335
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发表时间：
1991-06-01
期刊：
影响因子：
14.5
通讯作者：
TARONE, RE
中科院分区：
文献类型：
--
作者：
ROBBINS, JH;BRUMBACK, RA;TARONE, RE
着色性干皮病（XP）是一种常染色体隐性遗传的神经皮肤疾病，其特征是日光诱导的皮肤癌和DNA修复缺陷。 许多XP儿童发展为原发性神经元变性。 我们描述了2个不寻常的XP患者谁迟发性XP神经系统疾病。 体细胞遗传学研究表明，它们具有相同的缺陷DNA修复基因，都属于XP互补组A。 这2例患者以及之前在伦敦报告的A组患者，将青少年发作型XP神经系统疾病的晚发型确定为一种独特的临床实体。 这些患者培养的成纤维细胞株在紫外线照射治疗后存活的功能能力表明，他们的DNA修复缺陷不如典型的A组患者严重，A组患者具有更严重的神经变性，症状发作更早。 XP患者的神经细胞过早死亡（这可能是由于他们在DNA修复机制方面的遗传缺陷）表明，神经元中受损DNA的正常修复是维持人类神经系统完整性所必需的。
Xeroderma pigmentosum (XP) is an autosomal recessive, neurocutaneous disorder characterized by sunlight-induced skin cancers and defective DNA repair. Many XP children develop a primary neuronal degeneration. We describe 2 unusual XP patients who had a delayed onset of XP neurological disease. Somatic cell genetic studies indicated that they have the same defective DNA repair gene and are both in XP complementation group A. These 2 patients, together with a group A patient previously reported from London, establish as a distinct clinical entity the late onset type of the juvenile onset form of XP neurological disease. The functional capacity of these patients' cultured fibroblast strains to survive after treatment with ultraviolet radiation indicates that their DNA repair defect is less severe than that of typical group A patients who have a more severe neurodegeneration with an earlier symptomatic onset. The premature death of nerve cells in XP patients (which is presumably due to their inherited defects in DNA repair mechanisms) suggests that normal repair of damaged DNA in neurons is required to maintain integrity of the human nervous system.