Ataxia-Telangiectasia
- 1 July 1965
- journal article
- research article
- Published by American Medical Association (AMA) in American Journal of Diseases of Children
- Vol. 110 (1) , 51-63
- https://doi.org/10.1001/archpedi.1965.02090030057008
Abstract
THE SYNDROME of ataxia-telangiectasia was described in 1941 by Madame Louis-Bar,1but only after 1957 when Boder and Sedgwick,2Wells and Shy,3and Biemond4reported further cases has there been a growing interest in the subject. As a result, to date, over 100 cases are known from all parts of the world, but not all have been described in detail in the literature. The clinical features of the syndrome are now well recognized, although the disorder is probably occasionally mistaken for other forms of heredofamilial progressive neurological disease or cerebral palsy. Initially, interest lay in the genetic aspects and the clinical findings. However, more recent biochemical and immunological studies have opened new possibilities as to the cause of some of the cerebellar ataxias. This is a report of studies on our eight patients, six of them living and two who died. Case Reports Case1.—This girlKeywords
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