Research progress on ataxia-telangiectasia
10.3760/cma.j.issn.1673-4408.2019.11.009
- VernacularTitle: 共济失调性毛细血管扩张症的研究进展
- Author:
Xiaona LUO
1
;
Yucai CHEN
1
Author Information
1. Department of Neurology, Shanghai Children′s Hospital, Shanghai Jiao Tong University, Shanghai 200062, China
- Publication Type:Review
- Keywords:
Ataxia;
Telangiectasia;
Ataxia-telangiectasia mutated gene;
Research progress
- From:
International Journal of Pediatrics
2019;46(11):810-814
- CountryChina
- Language:Chinese
-
Abstract:
Ataxia-telangiectasia (AT) is a rare autosomal recessive genetic disorder resulting from ataxia-telangiectasia mutated(ATM) gene mutation.ATM involved in DNA repair.ATM is made up of 66 exons.Its mutation forms are complex, including nonsense mutation, missense mutation, shear site mutation, insertion and deletion, etc.The patients are characterized by progressive cerebellar atrophy and ataxia, disturbance of eye movement, telangiectasia and dystonia, a high risk of cancer and immunodeficiency.These patients are also hypersensitive to radiotherapy.AT is often neglected at the early stage.As pediatricians, we should pay attention to early ataxia and conduct genetic testing as early as possible to avoid radiation exposure.
