Ataxia telangiectasia in a brother and sister at older age.
In general ataxia telangiectasia is a disease of childhood leading to severe ataxia in the first decade and death in adolescence. We present a brother and a sister with the characteristic features of ataxia telangiectasia at the age of 43 and 44. They are still in reasonable good health, despite their relative old age. This unusual manifestation of ataxia telangiectasia will be discussed with emphasis on clinical and genetic aspects.
de Jonge
J
J
Department of Neurology, St. Elisabeth Hospital, Tilburg, The Netherlands.
Tijssen
C C
CC
D000328:Adult; D001260:Ataxia Telangiectasia / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D001927:Brain Diseases / Q000000981:diagnostic imaging / Q000209:etiology; D002114:Calcinosis / Q000000981:diagnostic imaging / Q000209:etiology; D003920:Diabetes Mellitus / Q000209:etiology; D005260:Female; D006801:Humans; D008297:Male; D010523:Peripheral Nervous System Diseases / Q000209:etiology; D014057:Tomography, X-Ray Computed; D000509:alpha-Fetoproteins / Q000097:blood
D000509:alpha-Fetoproteins