Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia
Abstrakt
Ataxia telangiectasia (AT) is an autosomal-recessive, multisystem disease characterized by progressive neurologic decline, oculocutaneous telangiectasias, immunodeficiency, susceptibility to sinopulmonary infections, autoimmune or other chronic inflammatory diseases, radiation sensitivity (x-rays and c-rays), and malignancies. It is caused by a mutation in the ataxia telangiectasia mutated (ATM) gene located on chromosome 11q22- 23.
In typical cases, progressive ataxia starts in the first year of life, leads to a wheelchair-bound state around the second decade, and it is variably accompanied by other movement disorders like chorea, dystonia, or myoclonus.1 However, there is increasing evidence of atypical forms or variants in which the clinical picture is different, in that it is less severe, with dystonic- predominant symptoms and without the typical clinical of AT.