Late-onset ataxia telangiectasia in two brothers presenting with juvenile resting tremor.
Identifieur interne : 004686 ( Ncbi/Merge ); précédent : 004685; suivant : 004687Late-onset ataxia telangiectasia in two brothers presenting with juvenile resting tremor.
Auteurs : J A Hiel [Pays-Bas] ; C M Weemaes ; D F Smeets ; C J Van De Vlasakker ; M W HorstinkSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 1994.
English descriptors
- KwdEn :
- 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).
- MESH :
- chemical , analysis : alpha-Fetoproteins.
- diagnosis : Ataxia Telangiectasia, Tremor.
- genetics : Ataxia Telangiectasia, Chromosome Aberrations, Gene Rearrangement, Tremor.
- Adult, Chromosomes, Human, Pair 14, Chromosomes, Human, Pair 7, Humans, Male, Neurologic Examination.
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.
DOI: 10.1002/mds.870090415
PubMed: 7526160
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pubmed:7526160Le document en format XML
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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.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">7526160</PMID><DateCreated><Year>1994</Year><Month>12</Month><Day>14</Day></DateCreated><DateCompleted><Year>1994</Year><Month>12</Month><Day>14</Day></DateCompleted><DateRevised><Year>2004</Year><Month>11</Month><Day>17</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>9</Volume><Issue>4</Issue><PubDate><Year>1994</Year><Month>Jul</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Late-onset ataxia telangiectasia in two brothers presenting with juvenile resting tremor.</ArticleTitle><Pagination><MedlinePgn>460-2</MedlinePgn></Pagination><Abstract><AbstractText>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). 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