MovDisordV3, Main, Exploration, bibRecord, 006475

Ataxia telangiectasia: A reappraisal of the ocular motor features and their value in the diagnosis of atypical cases

Identifieur interne : 006475 ( Main/Exploration ); précédent : 006474; suivant : 006476

Ataxia 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.

RBID : ISTEX:8C0450D145A924D83DEC2C74C49318F9822B5238

English descriptors

KwdEn :
- Adult, Ataxia Telangiectasia (complications), Ataxia Telangiectasia (diagnosis), Ataxia Telangiectasia (physiopathology), Ataxia telangiectasia, Eye Movements, Eye movements in cerebellar disease, Female, Humans, Male, Middle Aged, Nystagmus, Pathologic (etiology), Ocular motor apraxia, Saccades.
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:

https://api.istex.fr/document/8C0450D145A924D83DEC2C74C49318F9822B5238/fulltext/pdf

DOI: 10.1002/mds.870040405

Affiliations:

Le document en format XML

<record><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>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:2811891</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>
<idno type="wicri:Area/Main/Merge">009828</idno>
<idno type="wicri:Area/Main/Curation">006475</idno>
<idno type="wicri:Area/Main/Exploration">006475</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>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>
<affiliations><list><country><li>Royaume-Uni</li>
</country>
<region><li>Angleterre</li>
<li>Grand Londres</li>
</region>
<settlement><li>Londres</li>
</settlement>
</list>
<tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Stell" sort="Stell" uniqKey="Stell" last="Stell">Stell</name>
</region>
<name sortKey="Bronstein, A M" sort="Bronstein, A M" uniqKey="Bronstein A" first="A. M." last="Bronstein">A. M. Bronstein</name>
<name sortKey="Harding, A E" sort="Harding, A E" uniqKey="Harding A" first="A. E." last="Harding">A. E. Harding</name>
<name sortKey="Plant, G T" sort="Plant, G T" uniqKey="Plant G" first="G. T." last="Plant">G. T. Plant</name>
<name sortKey="Stell" sort="Stell" uniqKey="Stell" last="Stell">Stell</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 006475 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 006475 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     ISTEX:8C0450D145A924D83DEC2C74C49318F9822B5238
   |texte=   Ataxia telangiectasia: A reappraisal of the ocular motor features and their value in the diagnosis of atypical cases
}}

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

Movement Disorders (revue)

Ataxia telangiectasia: A reappraisal of the ocular motor features and their value in the diagnosis of atypical cases

Ataxia telangiectasia: A reappraisal of the ocular motor features and their value in the diagnosis of atypical cases

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.