THE SYNDROME of ataxia-telangiectasia was described in 1941 by Madame Louis-Bar,1 but only after 1957 when Boder and Sedgwick,2 Wells and Shy,3 and Biemond4 reported 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 1.—This girl
KARPATI G, EISEN AH, ANDERMANN F, BACAL HL, ROBB P. Ataxia-Telangiectasia: Further Observations and Report of Eight Cases. Am J Dis Child. 1965;110(1):51–63. doi:10.1001/archpedi.1965.02090030057008
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