title: Late-onset ataxia telangiectasia in two brothers presenting with juvenile resting tremor.
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 alpha-feto-protein 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.
authors.affiliation: Department of Neurology, University Hospital Nijmegen, The Netherlands.
authors.forename: J A
authors.initials: JA
authors.lastname: Hiel
authors.forename: C M
authors.initials: CM
authors.lastname: Weemaes
authors.forename: D F
authors.initials: DF
authors.lastname: Smeets
authors.forename: C J
authors.initials: CJ
authors.lastname: Van de Vlasakker
authors.forename: M W
authors.initials: MW
authors.lastname: Horstink
mesh_terms: D000328:Adult; D001260:Ataxia Telangiectasia / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics; D002883:Chromosomes, Human, Pair 14; D002897:Chromosomes, Human, Pair 7; D015321:Gene Rearrangement / Q000235:genetics; D006801:Humans; D008297:Male; D009460:Neurologic Examination; D014202:Tremor / Q000175:diagnosis / Q000235:genetics*; D000509:alpha-Fetoproteins / Q000032:analysis
chemical_list: D000509:alpha-Fetoproteins