Late-onset ataxia telangiectasia in two brothers presenting with juvenile resting tremor.
Identifieur interne : 004686 ( Ncbi/Checkpoint ); 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
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Late-onset ataxia telangiectasia in two brothers presenting with juvenile resting tremor.</title><author><name sortKey="Hiel, J A" sort="Hiel, J A" uniqKey="Hiel J" first="J A" last="Hiel">J A Hiel</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, University Hospital Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, University Hospital Nijmegen</wicri:regionArea><wicri:noRegion>University Hospital Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Weemaes, C M" sort="Weemaes, C M" uniqKey="Weemaes C" first="C M" last="Weemaes">C M Weemaes</name></author><author><name sortKey="Smeets, D F" sort="Smeets, D F" uniqKey="Smeets D" first="D F" last="Smeets">D F Smeets</name></author><author><name sortKey="Van De Vlasakker, C J" sort="Van De Vlasakker, C J" uniqKey="Van De Vlasakker C" first="C J" last="Van De Vlasakker">C J Van De Vlasakker</name></author><author><name sortKey="Horstink, M W" sort="Horstink, M W" uniqKey="Horstink M" first="M W" last="Horstink">M W Horstink</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="1994">1994</date><idno type="RBID">pubmed:7526160</idno><idno type="pmid">7526160</idno><idno type="doi">10.1002/mds.870090415</idno><idno type="wicri:Area/PubMed/Corpus">004A91</idno><idno type="wicri:Area/PubMed/Curation">004A91</idno><idno type="wicri:Area/PubMed/Checkpoint">004B10</idno><idno type="wicri:Area/Ncbi/Merge">004686</idno><idno type="wicri:Area/Ncbi/Curation">004686</idno><idno type="wicri:Area/Ncbi/Checkpoint">004686</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Late-onset ataxia telangiectasia in two brothers presenting with juvenile resting tremor.</title><author><name sortKey="Hiel, J A" sort="Hiel, J A" uniqKey="Hiel J" first="J A" last="Hiel">J A Hiel</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, University Hospital Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, University Hospital Nijmegen</wicri:regionArea><wicri:noRegion>University Hospital Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Weemaes, C M" sort="Weemaes, C M" uniqKey="Weemaes C" first="C M" last="Weemaes">C M Weemaes</name></author><author><name sortKey="Smeets, D F" sort="Smeets, D F" uniqKey="Smeets D" first="D F" last="Smeets">D F Smeets</name></author><author><name sortKey="Van De Vlasakker, C J" sort="Van De Vlasakker, C J" uniqKey="Van De Vlasakker C" first="C J" last="Van De Vlasakker">C J Van De Vlasakker</name></author><author><name sortKey="Horstink, M W" sort="Horstink, M W" uniqKey="Horstink M" first="M W" last="Horstink">M W Horstink</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="1994" type="published">1994</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Ataxia Telangiectasia (diagnosis)</term><term>Ataxia Telangiectasia (genetics)</term><term>Chromosome Aberrations (genetics)</term><term>Chromosomes, Human, Pair 14</term><term>Chromosomes, Human, Pair 7</term><term>Gene Rearrangement (genetics)</term><term>Humans</term><term>Male</term><term>Neurologic Examination</term><term>Tremor (diagnosis)</term><term>Tremor (genetics)</term><term>alpha-Fetoproteins (analysis)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="analysis" xml:lang="en"><term>alpha-Fetoproteins</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Ataxia Telangiectasia</term><term>Tremor</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Ataxia Telangiectasia</term><term>Chromosome Aberrations</term><term>Gene Rearrangement</term><term>Tremor</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Chromosomes, Human, Pair 14</term><term>Chromosomes, Human, Pair 7</term><term>Humans</term><term>Male</term><term>Neurologic Examination</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><affiliations><list><country><li>Pays-Bas</li></country></list><tree><noCountry><name sortKey="Horstink, M W" sort="Horstink, M W" uniqKey="Horstink M" first="M W" last="Horstink">M W Horstink</name><name sortKey="Smeets, D F" sort="Smeets, D F" uniqKey="Smeets D" first="D F" last="Smeets">D F Smeets</name><name sortKey="Van De Vlasakker, C J" sort="Van De Vlasakker, C J" uniqKey="Van De Vlasakker C" first="C J" last="Van De Vlasakker">C J Van De Vlasakker</name><name sortKey="Weemaes, C M" sort="Weemaes, C M" uniqKey="Weemaes C" first="C M" last="Weemaes">C M Weemaes</name></noCountry><country name="Pays-Bas"><noRegion><name sortKey="Hiel, J A" sort="Hiel, J A" uniqKey="Hiel J" first="J A" last="Hiel">J A Hiel</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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