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Late-onset ataxia telangiectasia in two brothers presenting with juvenile resting tremor

✍ Scribed by J. A. P. Hiel; C. M. R. Weemaes; D. F. C. M. Smeets; C. J. W. van de Vlasakker; Dr. M. W. I. M. Horstink


Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
284 KB
Volume
9
Category
Article
ISSN
0885-3185

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✦ Synopsis


Abstract

Two young adult brothers presented with a 5‐ to 6‐Hz resting tremor of the upper limbs. Although ataxia was not unequivocally present and ocular telangiectasia was minimal, typical rearrangements of chromosomes 7 and 14, and increased α‐fetoprotein levels indicated the presence of ataxia telangiectasia (AT). Resting tremor as a predominating symptom in AT is uncommon and to our knowledge has not been described previously.