Ataxia telangiectasia: A reappraisal of the ocular motor features and their value in the diagnosis of atypical cases
Identifieur interne : 009828 ( Main/Merge ); précédent : 009827; suivant : 009829Ataxia telangiectasia: A reappraisal of the ocular motor features and their value in the diagnosis of atypical cases
Auteurs : Stell [Royaume-Uni] ; A. M. Bronstein [Royaume-Uni] ; G. T. Plant [Royaume-Uni] ; A. E. Harding [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 1989.
English descriptors
- KwdEn :
- MESH :
- complications : Ataxia Telangiectasia.
- diagnosis : Ataxia Telangiectasia.
- etiology : Nystagmus, Pathologic.
- physiopathology : Ataxia Telangiectasia.
- Adult, Eye Movements, Female, Humans, Male, Middle Aged, Saccades.
Abstract
The eye movements of four patients with ataxia telangiectasia (AT), three of whom had an unusual neurological presentation, were studied. All had striking abnormalities of saccadic generation with markedly hypometric saccades, increased saccadic latency, but normal saccadic velocity. Three patients used head thrusts to aid refixation. In addition, there was absence of smooth pursuit and optokinetic nystagmus, and hyperactive vestibular responses. Two of the four patients had, in addition, periodic alternating nystagmus. This combination of an ocular motor apraxia with superadded cerebellar ocular motor abnormalities, and possibly periodic alternating nystagmus, should strongly suggest the diagnosis of AT, even if the clinical syndrome is otherwise atypical.
Url:
DOI: 10.1002/mds.870040405
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M." last="Bronstein">A. M. Bronstein</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Research Council Neuro‐otology Unit, Institute of Neurology, National Hospital for Nervous Diseases, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Plant, G T" sort="Plant, G T" uniqKey="Plant G" first="G. T." last="Plant">G. T. Plant</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University Department of Clinical Neurology National Hospital for Nervous Diseases, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Harding, A E" sort="Harding, A E" uniqKey="Harding A" first="A. E." last="Harding">A. E. Harding</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University Department of Clinical Neurology National Hospital for Nervous Diseases, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></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="1989">1989</date><biblScope unit="vol">4</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="320">320</biblScope><biblScope unit="page" to="329">329</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">8C0450D145A924D83DEC2C74C49318F9822B5238</idno><idno type="DOI">10.1002/mds.870040405</idno><idno type="ArticleID">MDS870040405</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Ataxia Telangiectasia (complications)</term><term>Ataxia Telangiectasia (diagnosis)</term><term>Ataxia Telangiectasia (physiopathology)</term><term>Ataxia telangiectasia</term><term>Eye Movements</term><term>Eye movements in cerebellar disease</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Nystagmus, Pathologic (etiology)</term><term>Ocular motor apraxia</term><term>Saccades</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Ataxia Telangiectasia</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Ataxia Telangiectasia</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Nystagmus, Pathologic</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Ataxia Telangiectasia</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Eye Movements</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Saccades</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The eye movements of four patients with ataxia telangiectasia (AT), three of whom had an unusual neurological presentation, were studied. All had striking abnormalities of saccadic generation with markedly hypometric saccades, increased saccadic latency, but normal saccadic velocity. Three patients used head thrusts to aid refixation. In addition, there was absence of smooth pursuit and optokinetic nystagmus, and hyperactive vestibular responses. Two of the four patients had, in addition, periodic alternating nystagmus. This combination of an ocular motor apraxia with superadded cerebellar ocular motor abnormalities, and possibly periodic alternating nystagmus, should strongly suggest the diagnosis of AT, even if the clinical syndrome is otherwise atypical.</div></front></TEI><double doi="10.1002/mds.870040405"><ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Ataxia telangiectasia: A reappraisal of the ocular motor features and their value in the diagnosis of atypical cases</title><author><name sortKey="Stell" sort="Stell" uniqKey="Stell" last="Stell">Stell</name></author><author><name sortKey="Bronstein, A M" sort="Bronstein, A M" uniqKey="Bronstein A" first="A. M." last="Bronstein">A. M. Bronstein</name></author><author><name sortKey="Plant, G T" sort="Plant, G T" uniqKey="Plant G" first="G. T." last="Plant">G. T. Plant</name></author><author><name sortKey="Harding, A E" sort="Harding, A E" uniqKey="Harding A" first="A. E." last="Harding">A. E. Harding</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:8C0450D145A924D83DEC2C74C49318F9822B5238</idno><date when="1989" year="1989">1989</date><idno type="doi">10.1002/mds.870040405</idno><idno type="url">https://api.istex.fr/document/8C0450D145A924D83DEC2C74C49318F9822B5238/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002106</idno><idno type="wicri:Area/Istex/Curation">002106</idno><idno type="wicri:Area/Istex/Checkpoint">004505</idno><idno type="wicri:doubleKey">0885-3185:1989:Stell:ataxia:telangiectasia:a</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Ataxia telangiectasia: A reappraisal of the ocular motor features and their value in the diagnosis of atypical cases</title><author><name sortKey="Stell" sort="Stell" uniqKey="Stell" last="Stell">Stell</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University Department of Clinical Neurology National Hospital for Nervous Diseases, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Research Council Neuro‐otology Unit, Institute of Neurology, National Hospital for Nervous Diseases, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Bronstein, A M" sort="Bronstein, A M" uniqKey="Bronstein A" first="A. M." last="Bronstein">A. M. Bronstein</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Research Council Neuro‐otology Unit, Institute of Neurology, National Hospital for Nervous Diseases, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Plant, G T" sort="Plant, G T" uniqKey="Plant G" first="G. T." last="Plant">G. T. Plant</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University Department of Clinical Neurology National Hospital for Nervous Diseases, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Harding, A E" sort="Harding, A E" uniqKey="Harding A" first="A. E." last="Harding">A. E. Harding</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University Department of Clinical Neurology National Hospital for Nervous Diseases, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></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="1989">1989</date><biblScope unit="vol">4</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="320">320</biblScope><biblScope unit="page" to="329">329</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">8C0450D145A924D83DEC2C74C49318F9822B5238</idno><idno type="DOI">10.1002/mds.870040405</idno><idno type="ArticleID">MDS870040405</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Ataxia telangiectasia</term><term>Eye movements in cerebellar disease</term><term>Ocular motor apraxia</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The eye movements of four patients with ataxia telangiectasia (AT), three of whom had an unusual neurological presentation, were studied. All had striking abnormalities of saccadic generation with markedly hypometric saccades, increased saccadic latency, but normal saccadic velocity. Three patients used head thrusts to aid refixation. In addition, there was absence of smooth pursuit and optokinetic nystagmus, and hyperactive vestibular responses. Two of the four patients had, in addition, periodic alternating nystagmus. This combination of an ocular motor apraxia with superadded cerebellar ocular motor abnormalities, and possibly periodic alternating nystagmus, should strongly suggest the diagnosis of AT, even if the clinical syndrome is otherwise atypical.</div></front></TEI></ISTEX><PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Ataxia telangiectasia: a reappraisal of the ocular motor features and their value in the diagnosis of atypical cases.</title><author><name sortKey="Stell, R" sort="Stell, R" uniqKey="Stell R" first="R" last="Stell">R. Stell</name><affiliation wicri:level="3"><nlm:affiliation>University Department of Clinical Neurology, National Hospital for Nervous Diseases, Queen Square, London, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University Department of Clinical Neurology, National Hospital for Nervous Diseases, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Bronstein, A M" sort="Bronstein, A M" uniqKey="Bronstein A" first="A M" last="Bronstein">A M Bronstein</name></author><author><name sortKey="Plant, G T" sort="Plant, G T" uniqKey="Plant G" first="G T" last="Plant">G T Plant</name></author><author><name sortKey="Harding, A E" sort="Harding, A E" uniqKey="Harding A" first="A E" last="Harding">A E Harding</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="1989">1989</date><idno type="RBID">pubmed:2811891</idno><idno type="pmid">2811891</idno><idno type="doi">10.1002/mds.870040405</idno><idno type="wicri:Area/PubMed/Corpus">004F58</idno><idno type="wicri:Area/PubMed/Curation">004F58</idno><idno type="wicri:Area/PubMed/Checkpoint">005001</idno><idno type="wicri:Area/Ncbi/Merge">004550</idno><idno type="wicri:Area/Ncbi/Curation">004550</idno><idno type="wicri:Area/Ncbi/Checkpoint">004550</idno><idno type="wicri:doubleKey">0885-3185:1989:Stell R:ataxia:telangiectasia:a</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Ataxia telangiectasia: a reappraisal of the ocular motor features and their value in the diagnosis of atypical cases.</title><author><name sortKey="Stell, R" sort="Stell, R" uniqKey="Stell R" first="R" last="Stell">R. Stell</name><affiliation wicri:level="3"><nlm:affiliation>University Department of Clinical Neurology, National Hospital for Nervous Diseases, Queen Square, London, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University Department of Clinical Neurology, National Hospital for Nervous Diseases, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Bronstein, A M" sort="Bronstein, A M" uniqKey="Bronstein A" first="A M" last="Bronstein">A M Bronstein</name></author><author><name sortKey="Plant, G T" sort="Plant, G T" uniqKey="Plant G" first="G T" last="Plant">G T Plant</name></author><author><name sortKey="Harding, A E" sort="Harding, A E" uniqKey="Harding A" first="A E" last="Harding">A E Harding</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="1989" type="published">1989</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Ataxia Telangiectasia (complications)</term><term>Ataxia Telangiectasia (diagnosis)</term><term>Ataxia Telangiectasia (physiopathology)</term><term>Eye Movements</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Nystagmus, Pathologic (etiology)</term><term>Saccades</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Ataxia Telangiectasia</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Ataxia Telangiectasia</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Nystagmus, Pathologic</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Ataxia Telangiectasia</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Eye Movements</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Saccades</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The eye movements of four patients with ataxia telangiectasia (AT), three of whom had an unusual neurological presentation, were studied. All had striking abnormalities of saccadic generation with markedly hypometric saccades, increased saccadic latency, but normal saccadic velocity. Three patients used head thrusts to aid refixation. In addition, there was absence of smooth pursuit and optokinetic nystagmus, and hyperactive vestibular responses. Two of the four patients had, in addition, periodic alternating nystagmus. This combination of an ocular motor apraxia with superadded cerebellar ocular motor abnormalities, and possibly periodic alternating nystagmus, should strongly suggest the diagnosis of AT, even if the clinical syndrome is otherwise atypical.</div></front></TEI></PubMed></double></record>Pour manipuler ce document sous Unix (Dilib)
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