Ataxia without telangiectasia masquerading as benign hereditary chorea
Identifieur interne : 005700 ( Main/Exploration ); 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
Affiliations:
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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><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li></region></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C." last="Klein">C. Klein</name></region><name sortKey="Marsden" sort="Marsden" uniqKey="Marsden" last="Marsden">Marsden</name><name sortKey="Quinn, N P" sort="Quinn, N P" uniqKey="Quinn N" first="N. P." last="Quinn">N. P. Quinn</name><name sortKey="Wenning, G K" sort="Wenning, G K" uniqKey="Wenning G" first="G. K." last="Wenning">G. K. Wenning</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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