Author/Editor		Rajer, E; Jerman, M; Praprotnik, M; Avčin, T
Title		Ataksija-telangiektazija
Translated title		Ataxia-telangiectasia
Type		članek
Source		Slov Pediatr
Vol. and No.		Letnik 14, št. 3
Publication year		2007
Volume		str. 133-7
Language		slo
Abstract		Ataxia-telangiectasia is a rare autosomal recessive disorder of inherited progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infections due to immunodeficiency. A high incidence of malignant diseases and sensitivity to ionising radiation are also characteristic of the disease. The disease is caused by mutation in the ATM gene, which encodes a large protein involved in DNA repair and regulation of cell cycle control. In children ataxia manifests itself when the child walks, while the characteristic telangiectasias of the skin and mucous membranes appear between the ages of 3 and 7 years. Treatment is symptomatic. Currently there is no effective treatment available to halt the disease or prevent progression of the neurological symptoms. In this article the clinical characteristics and pathologic changes of the disease, and a patient treated at the University Children's Hospital Ljubljana, are described.
Descriptors		ATAXIA TELANGIECTASIA CHILD