Ataxia without telangiectasia masquerading as benign hereditary chorea
Identifieur interne : 005700 ( Main/Curation ); précédent : 005699; suivant : 005701Ataxia without telangiectasia masquerading as benign hereditary chorea
Auteurs : C. Klein [Royaume-Uni] ; G. K. Wenning [Royaume-Uni] ; N. P. Quinn [Royaume-Uni] ; Marsden [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 1996-03.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Adolescent, Apraxias (genetics), Ataxia telangiectasia, Benign hereditary chorea, Case study, Child, Child, Preschool, Chorea, Chromosomes, Human, Pair 14, Chromosomes, Human, Pair 7, Diagnosis, Differential, Differential diagnostic, Family study, Follow-Up Studies, Human, Humans, Huntington Disease (diagnosis), Huntington Disease (genetics), Infant, Male, Neurologic Examination, Spinocerebellar Degenerations (diagnosis), Spinocerebellar Degenerations (genetics), Translocation, Genetic (genetics).
- MESH :
- diagnosis : Huntington Disease, Spinocerebellar Degenerations.
- genetics : Apraxias, Huntington Disease, Spinocerebellar Degenerations, Translocation, Genetic.
- Adolescent, Child, Child, Preschool, Chromosomes, Human, Pair 14, Chromosomes, Human, Pair 7, Diagnosis, Differential, Follow-Up Studies, Humans, Infant, Male, Neurologic Examination.
Abstract
We report a nonconsanguineous family in whom two (of three) sons developed isolated chorea in early childhood, suggesting a diagnosis of benign hereditary chorea (BHC). However, cerebellar ataxia and oculomotor apraxia, without telangiectasia, subsequently developed. Chromosome analysis showed increased radiosensitivity in both brothers and translocations in the younger one. We conclude that ataxia with chromosomal instability may masquerade as BHC in some patients.
Url:
DOI: 10.1002/mds.870110217
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Klein</name><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>University Department of Neurology, Institute of Neurology National Hospital for Nervous Disorders, London</wicri:cityArea></affiliation></author><author><name sortKey="Wenning, G K" sort="Wenning, G K" uniqKey="Wenning G" first="G. K." last="Wenning">G. K. Wenning</name><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>University Department of Neurology, Institute of Neurology National Hospital for Nervous Disorders, London</wicri:cityArea></affiliation></author><author><name sortKey="Quinn, N P" sort="Quinn, N P" uniqKey="Quinn N" first="N. P." last="Quinn">N. P. Quinn</name><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>University Department of Neurology, Institute of Neurology National Hospital for Nervous Disorders, London</wicri:cityArea></affiliation></author><author><name sortKey="Marsden" sort="Marsden" uniqKey="Marsden" last="Marsden">Marsden</name><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>University Department of Neurology, Institute of Neurology National Hospital for Nervous Disorders, London</wicri:cityArea></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="1996-03">1996-03</date><biblScope unit="vol">11</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="217">217</biblScope><biblScope unit="page" to="220">220</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">7457DC969788BCD04B1399355C7BF6C842149FD4</idno><idno type="DOI">10.1002/mds.870110217</idno><idno type="ArticleID">MDS870110217</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Apraxias (genetics)</term><term>Ataxia telangiectasia</term><term>Benign hereditary chorea</term><term>Case study</term><term>Child</term><term>Child, Preschool</term><term>Chorea</term><term>Chromosomes, Human, Pair 14</term><term>Chromosomes, Human, Pair 7</term><term>Diagnosis, Differential</term><term>Differential diagnostic</term><term>Family study</term><term>Follow-Up Studies</term><term>Human</term><term>Humans</term><term>Huntington Disease (diagnosis)</term><term>Huntington Disease (genetics)</term><term>Infant</term><term>Male</term><term>Neurologic Examination</term><term>Spinocerebellar Degenerations (diagnosis)</term><term>Spinocerebellar Degenerations (genetics)</term><term>Translocation, Genetic (genetics)</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Huntington Disease</term><term>Spinocerebellar Degenerations</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Apraxias</term><term>Huntington Disease</term><term>Spinocerebellar Degenerations</term><term>Translocation, Genetic</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Child</term><term>Child, Preschool</term><term>Chromosomes, Human, Pair 14</term><term>Chromosomes, Human, Pair 7</term><term>Diagnosis, Differential</term><term>Follow-Up Studies</term><term>Humans</term><term>Infant</term><term>Male</term><term>Neurologic Examination</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Ataxie télangiectasie</term><term>Chorée syndrome</term><term>Diagnostic différentiel</term><term>Etude cas</term><term>Etude familiale</term><term>Homme</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report a nonconsanguineous family in whom two (of three) sons developed isolated chorea in early childhood, suggesting a diagnosis of benign hereditary chorea (BHC). However, cerebellar ataxia and oculomotor apraxia, without telangiectasia, subsequently developed. Chromosome analysis showed increased radiosensitivity in both brothers and translocations in the younger one. We conclude that ataxia with chromosomal instability may masquerade as BHC in some patients.</div></front></TEI><double idat="0885-3185:1996:Klein C:ataxia:without:telangiectasia"><INIST><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Ataxia without telangiectasia masquerading as benign hereditary chorea</title><author><name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C." last="Klein">C. Klein</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>University Department of Neurology, Institute of Neurology, National Hospital for Nervous Disorders, Queen Square</s1><s2>London WC1N 3BG</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>London WC1N 3BG</wicri:noRegion></affiliation></author><author><name sortKey="Wenning, G K" sort="Wenning, G K" uniqKey="Wenning G" first="G. K." last="Wenning">G. K. Wenning</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>University Department of Neurology, Institute of Neurology, National Hospital for Nervous Disorders, Queen Square</s1><s2>London WC1N 3BG</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>London WC1N 3BG</wicri:noRegion></affiliation></author><author><name sortKey="Quinn, N P" sort="Quinn, N P" uniqKey="Quinn N" first="N. P." last="Quinn">N. P. Quinn</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>University Department of Neurology, Institute of Neurology, National Hospital for Nervous Disorders, Queen Square</s1><s2>London WC1N 3BG</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>London WC1N 3BG</wicri:noRegion></affiliation></author><author><name sortKey="Marsden, C D" sort="Marsden, C D" uniqKey="Marsden C" first="C. D." last="Marsden">C. D. Marsden</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>University Department of Neurology, Institute of Neurology, National Hospital for Nervous Disorders, Queen Square</s1><s2>London WC1N 3BG</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>London WC1N 3BG</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">96-0177623</idno><date when="1996">1996</date><idno type="stanalyst">PASCAL 96-0177623 INIST</idno><idno type="RBID">Pascal:96-0177623</idno><idno type="wicri:Area/PascalFrancis/Corpus">003400</idno><idno type="wicri:Area/PascalFrancis/Curation">003424</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">003410</idno><idno type="wicri:doubleKey">0885-3185:1996:Klein C:ataxia:without:telangiectasia</idno><idno type="wicri:Area/Main/Merge">008942</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Ataxia without telangiectasia masquerading as benign hereditary chorea</title><author><name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C." last="Klein">C. Klein</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>University Department of Neurology, Institute of Neurology, National Hospital for Nervous Disorders, Queen Square</s1><s2>London WC1N 3BG</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>London WC1N 3BG</wicri:noRegion></affiliation></author><author><name sortKey="Wenning, G K" sort="Wenning, G K" uniqKey="Wenning G" first="G. K." last="Wenning">G. K. Wenning</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>University Department of Neurology, Institute of Neurology, National Hospital for Nervous Disorders, Queen Square</s1><s2>London WC1N 3BG</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>London WC1N 3BG</wicri:noRegion></affiliation></author><author><name sortKey="Quinn, N P" sort="Quinn, N P" uniqKey="Quinn N" first="N. P." last="Quinn">N. P. Quinn</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>University Department of Neurology, Institute of Neurology, National Hospital for Nervous Disorders, Queen Square</s1><s2>London WC1N 3BG</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>London WC1N 3BG</wicri:noRegion></affiliation></author><author><name sortKey="Marsden, C D" sort="Marsden, C D" uniqKey="Marsden C" first="C. D." last="Marsden">C. D. Marsden</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>University Department of Neurology, Institute of Neurology, National Hospital for Nervous Disorders, Queen Square</s1><s2>London WC1N 3BG</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>London WC1N 3BG</wicri:noRegion></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="1996">1996</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Ataxia telangiectasia</term><term>Case study</term><term>Chorea</term><term>Differential diagnostic</term><term>Family study</term><term>Human</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Chorée syndrome</term><term>Ataxie télangiectasie</term><term>Etude cas</term><term>Diagnostic différentiel</term><term>Homme</term><term>Etude familiale</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass></profileDesc></teiHeader></TEI></INIST><ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Ataxia without telangiectasia masquerading as benign hereditary chorea</title><author><name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C." last="Klein">C. Klein</name></author><author><name sortKey="Wenning, G K" sort="Wenning, G K" uniqKey="Wenning G" first="G. K." last="Wenning">G. K. Wenning</name></author><author><name sortKey="Quinn, N P" sort="Quinn, N P" uniqKey="Quinn N" first="N. P." last="Quinn">N. P. Quinn</name></author><author><name sortKey="Marsden" sort="Marsden" uniqKey="Marsden" last="Marsden">Marsden</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:7457DC969788BCD04B1399355C7BF6C842149FD4</idno><date when="1996" year="1996">1996</date><idno type="doi">10.1002/mds.870110217</idno><idno type="url">https://api.istex.fr/document/7457DC969788BCD04B1399355C7BF6C842149FD4/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">003346</idno><idno type="wicri:Area/Istex/Curation">003346</idno><idno type="wicri:Area/Istex/Checkpoint">003C02</idno><idno type="wicri:doubleKey">0885-3185:1996:Klein C:ataxia:without:telangiectasia</idno><idno type="wicri:source">PubMed</idno><idno type="RBID">pubmed:8684395</idno><idno type="wicri:Area/PubMed/Corpus">004850</idno><idno type="wicri:Area/PubMed/Curation">004850</idno><idno type="wicri:Area/PubMed/Checkpoint">004874</idno><idno type="wicri:Area/Ncbi/Merge">004A85</idno><idno type="wicri:Area/Ncbi/Curation">004A85</idno><idno type="wicri:Area/Ncbi/Checkpoint">004A85</idno><idno type="wicri:doubleKey">0885-3185:1996:Klein C:ataxia:without:telangiectasia</idno><idno type="wicri:Area/Main/Merge">008806</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Ataxia without telangiectasia masquerading as benign hereditary chorea</title><author><name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C." last="Klein">C. Klein</name><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>University Department of Neurology, Institute of Neurology National Hospital for Nervous Disorders, London</wicri:cityArea></affiliation></author><author><name sortKey="Wenning, G K" sort="Wenning, G K" uniqKey="Wenning G" first="G. K." last="Wenning">G. K. Wenning</name><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>University Department of Neurology, Institute of Neurology National Hospital for Nervous Disorders, London</wicri:cityArea></affiliation></author><author><name sortKey="Quinn, N P" sort="Quinn, N P" uniqKey="Quinn N" first="N. P." last="Quinn">N. P. Quinn</name><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>University Department of Neurology, Institute of Neurology National Hospital for Nervous Disorders, London</wicri:cityArea></affiliation></author><author><name sortKey="Marsden" sort="Marsden" uniqKey="Marsden" last="Marsden">Marsden</name><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>University Department of Neurology, Institute of Neurology National Hospital for Nervous Disorders, London</wicri:cityArea></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="1996-03">1996-03</date><biblScope unit="vol">11</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="217">217</biblScope><biblScope unit="page" to="220">220</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">7457DC969788BCD04B1399355C7BF6C842149FD4</idno><idno type="DOI">10.1002/mds.870110217</idno><idno type="ArticleID">MDS870110217</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Apraxias (genetics)</term><term>Ataxia telangiectasia</term><term>Benign hereditary chorea</term><term>Child</term><term>Child, Preschool</term><term>Chromosomes, Human, Pair 14</term><term>Chromosomes, Human, Pair 7</term><term>Diagnosis, Differential</term><term>Follow-Up Studies</term><term>Humans</term><term>Huntington Disease (diagnosis)</term><term>Huntington Disease (genetics)</term><term>Infant</term><term>Male</term><term>Neurologic Examination</term><term>Spinocerebellar Degenerations (diagnosis)</term><term>Spinocerebellar Degenerations (genetics)</term><term>Translocation, Genetic (genetics)</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Huntington Disease</term><term>Spinocerebellar Degenerations</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Apraxias</term><term>Huntington Disease</term><term>Spinocerebellar Degenerations</term><term>Translocation, Genetic</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Child</term><term>Child, Preschool</term><term>Chromosomes, Human, Pair 14</term><term>Chromosomes, Human, Pair 7</term><term>Diagnosis, Differential</term><term>Follow-Up Studies</term><term>Humans</term><term>Infant</term><term>Male</term><term>Neurologic Examination</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report a nonconsanguineous family in whom two (of three) sons developed isolated chorea in early childhood, suggesting a diagnosis of benign hereditary chorea (BHC). However, cerebellar ataxia and oculomotor apraxia, without telangiectasia, subsequently developed. Chromosome analysis showed increased radiosensitivity in both brothers and translocations in the younger one. We conclude that ataxia with chromosomal instability may masquerade as BHC in some patients.</div></front></TEI></ISTEX></double></record>Pour manipuler ce document sous Unix (Dilib)
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