MYOINOSITOL ON CEREBELLAR FUNCTION IN PATIENTS WITH ATAXIA TELANGIECTASIA

常染色体隐性遗传病，共济失调毛细血管扩张症（AT），导致小脑共济失调，免疫缺陷和癌症。有缺陷的基因ATM编码一种大蛋白，这种蛋白似乎局限于宿主细胞的细胞核，并在AT中有缺陷的DNA修复中发挥作用。本项目的目的是：1)研究不同年龄、不同ATM基因突变患者的小脑功能障碍特征；2)描述患者的t细胞异常；3)测定细胞内肌醇和磷酸肌苷的水平；4)确定任何临床或实验室异常是否可以通过向患者提供磷酸肌醇前体（肌醇）作为其日常饮食的一部分来逆转。这将通过进行安慰剂对照、双盲交叉研究来完成，在每个月初和月末，将进行小血管和t细胞研究，以及细胞中磷脂苷和肌醇的测量。

The autosomal recessive disorder, Ataxia Telangiectasia (AT), results in cerebellar ataxia, immunodeficiency and cancer. The defective gene, ATM, encodes a large protein which appears to be confined to the nucleus of the host cells and plays a role in DNA repair which is defective in AT. The goals of this project are to: 1) characterize the cerebellar dysfunction in patients of different ages and with different ATM gene mutations; 2) characterize the T-cell abnormalities in patients; 3) measure the levels of the myo-inositol and the phosphoinositides in cells; 4) determine whether any of the clinical or laboratory abnormalities can be reversed by supplying for 1 month more of the phosphoinositide precursor, myo-inositol, to patients as part of their daily diet. This will be accomplished by performing a placebo controlled, double-blind crossover study in which at the beginning and end of each month the crebellar and T-cell studies will be performed as well as the measurement of phosphoinsoitides and myo-inositol in cells.