IN 1941 Madame Louis-Bar described a clinical syndrome characterized by a progressive cerebellar ataxia and telangiectasiae of the skin and conjunctivae. Boder and Sedgwick1 reported seven more cases in 1957. Because these cases included three pairs of affected siblings, and no other affected relatives, a simple recessive Mendelian mode of inheritance was suggested. Since then the number of published cases has increased rapidly (Table 1), and although several authors have assumed a recessive mode of inheritance, no one has published an analysis to show that the familial distribution of the disease does, in fact, fit the statistical expectation for autosomal recessive inheritance. This is the purpose of the present report.
In this syndrome ataxia is usually the first symptom, appearing at the time when the child starts walking. The ataxia is cerebellar and affects station, gait, and intention. The telangiectasiae have a later onset at about four to six
TADJOEDIN MK, FRASER FC. Heredity of Ataxia-Telangiectasia (Louis-Bar Syndrome). Am J Dis Child. 1965;110(1):64-68. doi:10.1001/archpedi.1965.02090030070009