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神经元蜡样质脂褐素沉积症(NCL)是一组常染色体隐性或显性遗传病。NCL基本生化缺陷迄今不明,以进行性痴呆、癫痫发作与视力受损害为特征。神经组织内形态特征的包涵体为本病典型的病理学改变。通过连锁分析己将 JNCL 基因定位于16q,INCL 基因定位于 p。本病目前尚无有效的治疗措施,仅以支持疗法来维持或延长患者的生命,以对症疗法来减轻患者的痛苦。动物实验表明,骨髓移植将成为有效的治疗方法。自体骨髓细胞逆转录病毒基因治疗将为 NCL 的治疗带来希望。
Neuronal wax-like lipofuscinosis (NCL) is a group of autosomal recessive or dominant genetic diseases. The basic biochemical deficiencies of NCL have so far been unknown and are characterized by progressive dementia, seizures and impaired vision. Inclusion of morphological features within the nerve tissue pathological changes typical of the disease. The JNCL gene has been mapped to 16q by linkage analysis and the INCL gene has been mapped to p. The disease is currently no effective treatment, only to support the treatment to maintain or prolong the life of patients, symptomatic treatment to alleviate the suffering of patients. Animal experiments show that bone marrow transplantation will be an effective treatment. Autologous bone marrow cell retrovirus gene therapy will bring hope for the treatment of NCL.