MovDisordV3, Main, Merge, bibRecord, 005188

Spinocerebellar ataxia type 17 : Extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging

Identifieur interne : 005188 ( Main/Merge ); précédent : 005187; suivant : 005189

Spinocerebellar ataxia type 17 : Extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging

Auteurs : Clement T. Loy [Royaume-Uni] ; Mary G. Sweeney [Royaume-Uni] ; Mary B. Davis [Royaume-Uni] ; Adrian J. Wills [Royaume-Uni] ; Guy V. Sawle [Royaume-Uni] ; Andrew Lees (neurologue) [Royaume-Uni] ; Sarah J. Tabrizi [Royaume-Uni]

Source :

Movement disorders [ 0885-3185 ] ; 2005.

RBID : Pascal:06-0077748

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Ataxie spinocérébelleuse, Phénotype, Hyperintensité, Imagerie RMN, Noyau gris central.

English descriptors

KwdEn :
- Basal ganglion, Hyperintensity, Nervous system diseases, Nuclear magnetic resonance imaging, Phenotype, Spinocerebellar ataxia.

Abstract

We report on a 50-year-old woman who presented with an 8-year history of involuntary movements, unsteadiness, and cognitive decline. Examination revealed multidomain cognitive deficits, jerky ocular pursuit movements, hypometric saccades, gaze impersistence, dysarthria, upper limb dystonia, and widespread chorea. TATA-binding protein gene test revealed trinucleotide expansion allele sizes of 47 and 39 repeats, confirming the diagnosis of spinocerebellar ataxia type 17 (SCA-17). Magnetic resonance imaging (MRI) showed marked cerebellar atrophy and putaminal rim hyperintensity. This is the first case of SCA-17 reported to show MRI signal change in the basal ganglia, and extends the phenotypic manifestation of SCA-17.

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

to stream PascalFrancis, to step Corpus: 001C98
to stream PascalFrancis, to step Curation: 001023
to stream PascalFrancis, to step Checkpoint: 001D10

Links to Exploration step

Pascal:06-0077748

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Spinocerebellar ataxia type 17 : Extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging</title>
<author><name sortKey="Loy, Clement T" sort="Loy, Clement T" uniqKey="Loy C" first="Clement T." last="Loy">Clement T. Loy</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>National Hospital for Neurology and Neurosurgery, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<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="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G." last="Sweeney">Mary G. Sweeney</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Neurogenetics, National Hospital for Neurology and Neurosurgery, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<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="Davis, Mary B" sort="Davis, Mary B" uniqKey="Davis M" first="Mary B." last="Davis">Mary B. Davis</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Neurogenetics, National Hospital for Neurology and Neurosurgery, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<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="Wills, Adrian J" sort="Wills, Adrian J" uniqKey="Wills A" first="Adrian J." last="Wills">Adrian J. Wills</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, Queens Medical Centre</s1>
<s2>Nottingham</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Nottingham</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sawle, Guy V" sort="Sawle, Guy V" uniqKey="Sawle G" first="Guy V." last="Sawle">Guy V. Sawle</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, Queens Medical Centre</s1>
<s2>Nottingham</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Nottingham</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name>
<affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Reta Lila Weston Institute of Neurological Studies, Royal Free and University College London Medical School</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName>National Hospital for Neurology and Neurosurgery</orgName>
</affiliation>
</author>
<author><name sortKey="Tabrizi, Sarah J" sort="Tabrizi, Sarah J" uniqKey="Tabrizi S" first="Sarah J." last="Tabrizi">Sarah J. Tabrizi</name>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Neurodegenerative Diseases, Institute of Neurology, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">06-0077748</idno>
<date when="2005">2005</date>
<idno type="stanalyst">PASCAL 06-0077748 INIST</idno>
<idno type="RBID">Pascal:06-0077748</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">001C98</idno>
<idno type="wicri:Area/PascalFrancis/Curation">001023</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">001D10</idno>
<idno type="wicri:doubleKey">0885-3185:2005:Loy C:spinocerebellar:ataxia:type</idno>
<idno type="wicri:Area/Main/Merge">005188</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Spinocerebellar ataxia type 17 : Extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging</title>
<author><name sortKey="Loy, Clement T" sort="Loy, Clement T" uniqKey="Loy C" first="Clement T." last="Loy">Clement T. Loy</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>National Hospital for Neurology and Neurosurgery, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<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="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G." last="Sweeney">Mary G. Sweeney</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Neurogenetics, National Hospital for Neurology and Neurosurgery, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<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="Davis, Mary B" sort="Davis, Mary B" uniqKey="Davis M" first="Mary B." last="Davis">Mary B. Davis</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Neurogenetics, National Hospital for Neurology and Neurosurgery, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<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="Wills, Adrian J" sort="Wills, Adrian J" uniqKey="Wills A" first="Adrian J." last="Wills">Adrian J. Wills</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, Queens Medical Centre</s1>
<s2>Nottingham</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Nottingham</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sawle, Guy V" sort="Sawle, Guy V" uniqKey="Sawle G" first="Guy V." last="Sawle">Guy V. Sawle</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, Queens Medical Centre</s1>
<s2>Nottingham</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Nottingham</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name>
<affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Reta Lila Weston Institute of Neurological Studies, Royal Free and University College London Medical School</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName>National Hospital for Neurology and Neurosurgery</orgName>
</affiliation>
</author>
<author><name sortKey="Tabrizi, Sarah J" sort="Tabrizi, Sarah J" uniqKey="Tabrizi S" first="Sarah J." last="Tabrizi">Sarah J. Tabrizi</name>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Neurodegenerative Diseases, Institute of Neurology, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</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="2005">2005</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>Basal ganglion</term>
<term>Hyperintensity</term>
<term>Nervous system diseases</term>
<term>Nuclear magnetic resonance imaging</term>
<term>Phenotype</term>
<term>Spinocerebellar ataxia</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Ataxie spinocérébelleuse</term>
<term>Phénotype</term>
<term>Hyperintensité</term>
<term>Imagerie RMN</term>
<term>Noyau gris central</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">We report on a 50-year-old woman who presented with an 8-year history of involuntary movements, unsteadiness, and cognitive decline. Examination revealed multidomain cognitive deficits, jerky ocular pursuit movements, hypometric saccades, gaze impersistence, dysarthria, upper limb dystonia, and widespread chorea. TATA-binding protein gene test revealed trinucleotide expansion allele sizes of 47 and 39 repeats, confirming the diagnosis of spinocerebellar ataxia type 17 (SCA-17). Magnetic resonance imaging (MRI) showed marked cerebellar atrophy and putaminal rim hyperintensity. This is the first case of SCA-17 reported to show MRI signal change in the basal ganglia, and extends the phenotypic manifestation of SCA-17.</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>
<orgName><li>National Hospital for Neurology and Neurosurgery</li>
</orgName>
</list>
<tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Loy, Clement T" sort="Loy, Clement T" uniqKey="Loy C" first="Clement T." last="Loy">Clement T. Loy</name>
</region>
<name sortKey="Davis, Mary B" sort="Davis, Mary B" uniqKey="Davis M" first="Mary B." last="Davis">Mary B. Davis</name>
<name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name>
<name sortKey="Sawle, Guy V" sort="Sawle, Guy V" uniqKey="Sawle G" first="Guy V." last="Sawle">Guy V. Sawle</name>
<name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G." last="Sweeney">Mary G. Sweeney</name>
<name sortKey="Tabrizi, Sarah J" sort="Tabrizi, Sarah J" uniqKey="Tabrizi S" first="Sarah J." last="Tabrizi">Sarah J. Tabrizi</name>
<name sortKey="Wills, Adrian J" sort="Wills, Adrian J" uniqKey="Wills A" first="Adrian J." last="Wills">Adrian J. Wills</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

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

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 005188 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Merge/biblio.hfd -nk 005188 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Main
   |étape=   Merge
   |type=    RBID
   |clé=     Pascal:06-0077748
   |texte=   Spinocerebellar ataxia type 17 : Extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging
}}

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)
	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.

Movement Disorders (revue)

Spinocerebellar ataxia type 17 : Extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging

Spinocerebellar ataxia type 17 : Extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging

Source :

Descripteurs français

English descriptors

Abstract

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

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri