Tuberous Sclerosis: A Clinical and Genetical Investigation*

SERUM α2‐MACROGLOBULIN LEVELS IN TUBEROSE SCLEROSIS

“…"It is probable that the whole group of lesions and mental disturbances represent pleiotropic effects of a single abnormal gene which is domi-a2-MAGROGLOBULIN nant." Although dominant inheritance is now generally accepted, many cases are due to fresh mutations (Penrose suggested that one half of the cases arise this way; Zaremba suggests the figure should be nearer one-third (Zaremba 1968).…”

Chemical Analysis of an Angiofibroma From a Patient With Tuberous Sclerosis

“…Penrose (1963) estimated the incidence of tuberose sclerosis as thirty-three per million in the general population and forty-four cases per million was recorded by Zaremba (1968) in Poland. These rates indicated that the prevalence of tuberose sclerosis is approximately equal to or greater than many intensely investigated mental retardation disorders.…”

Tuberose Sclerosis Without Adenoma Sebaceum

“…In searching the literature we have found no example of parents both without adenoma sebaceum having two children with tuberose sclerosis (Gunther and Penrose, 193.5;Borberg, 19. 'il;Dickerson, 1951;Zaremba, 1968;Nevin and Pearce, 1968;Bundey and Evans, 1969). Neither have we found an example of a "skipped" generation.…”