共济失调-毛细血管扩张样障碍1
基因病名称(英)
Ataxia-telangiectasia-like disorder 1
别名(英)
Ataxia-telangiectasia-like disorder,ATLD
统计
reviewed:1; annotated:0
交叉引用
604391,C1858391,D002524,D049914
描述(英)
A rare disorder characterized by progressive cerebellar ataxia, dysarthria, abnormal eye movements, and absence of telangiectasia. ATLD patients show normal levels of total IgG, IgA and IgM, although there may be reduced levels of specific functional antibodies. At the cellular level, ATLD exhibits hypersensitivity to ionizing radiation and radioresistant DNA synthesis.
描述
一种以进行性小脑共济失调、构音障碍、眼球运动异常和无毛细血管扩张为特征的罕见疾病。ATLD 患者的总 IgG、IgA 和 IgM 水平正常，但特异性功能抗体水平可能降低。在细胞水平上，ATLD 对电离辐射和抗辐射 DNA 合成表现出超敏反应。