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:
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 004A91
- to stream PubMed, to step Curation: 004A91
- to stream PubMed, to step Checkpoint: 004B10
- to stream Ncbi, to step Merge: 004686
- to stream Ncbi, to step Curation: 004686
Links to Exploration step
pubmed:7526160Le document en format XML
<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)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Ncbi/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 004686 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd -nk 004686 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= Ncbi |étape= Checkpoint |type= RBID |clé= pubmed:7526160 |texte= Late-onset ataxia telangiectasia in two brothers presenting with juvenile resting tremor. }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/RBID.i -Sk "pubmed:7526160" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd \ | NlmPubMed2Wicri -a MovDisordV3
![]() | This area was generated with Dilib version V0.6.23. | ![]() |