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

Mov Disord. 1994 Jul;9(4):460-2. doi: 10.1002/mds.870090415.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Ataxia Telangiectasia / diagnosis
  • Ataxia Telangiectasia / genetics*
  • Chromosome Aberrations / genetics
  • Chromosomes, Human, Pair 14
  • Chromosomes, Human, Pair 7
  • Gene Rearrangement / genetics
  • Humans
  • Male
  • Neurologic Examination
  • Tremor / diagnosis
  • Tremor / genetics*
  • alpha-Fetoproteins / analysis

Substances

  • alpha-Fetoproteins