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Late‐onset ataxia telangiectasia in two brothers presenting with juvenile resting tremor
Author(s) -
Hiel J. A. P.,
Weemaes C. M. R.,
Smeets D. F. C. M.,
van de Vlasakker C. J. W.,
Horstink M. W. I. M.
Publication year - 1994
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.870090415
Subject(s) - ataxia telangiectasia , ataxia , juvenile , medicine , telangiectasia , resting tremor , neurological disorder , audiology , dermatology , psychology , central nervous system disease , pathology , biology , surgery , genetics , psychiatry , parkinson's disease , dna , dna damage , disease
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.