Ataxia-telangiectasia. (Clinical and immunological aspects).
This syndrome was defined by the authors in 1947. Earlier publications of similar disease descriptions were by Syllaba and Henner (1926), Louis-Bar (1941). The authors at present have a stock of 253 cases. The cardinal symptoms of this phakomatosis are: Cerebellar ataxia which begin in infancy and take a slowly progressive course. In the late stages free walking and standing are no longer possible. Progressive atactic speech disorders, cerebellar atrophy in the pneumoencephalogram. Slowly progressing symmetrical skin and mucosal telangiectasia in the face and especially on the conjunctivae at the age of 3 to 6 years. Relapsing sinopulmonary infections with a tendency toward the development of bronchiectases. Apraxia of eye movements. Atrophy of facial skin and premature graying of hair. Recessively hereditary disorder with a high familial manifestation. This syndrome combines the spinocerebellar degeneration, phakomatoses, and infantile dementia processes. Such other conditions as abnormity or absence of thymus, reduction in gamma globulins, amino-aciduria, autosomal-recessive inheritance suggest a genetically determined "error of metabolism".
D001260:Ataxia Telangiectasia / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D006801:Humans; D006968:Hypersensitivity, Delayed / Q000276:immunology; D007070:Immunoglobulin A / Q000378:metabolism; D007223:Infant; D013950:Thymus Gland / Q000276:immunology
D007070:Immunoglobulin A