Spinocerebellar ataxia type 17: Extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging
Identifieur interne : 003725 ( Main/Exploration ); précédent : 003724; suivant : 003726Spinocerebellar 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 ] ; 2005-11.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Basal ganglion, Cognition Disorders (etiology), Female, Humans, Hyperintensity, Magnetic Resonance Imaging, Middle Aged, Nervous system diseases, Nuclear magnetic resonance imaging, Phenotype, Putamen (pathology), SCA‐17, Spinocerebellar Ataxias (genetics), Spinocerebellar Ataxias (pathology), Spinocerebellar Ataxias (physiopathology), Spinocerebellar ataxia, TATA-Box Binding Protein (genetics), Trinucleotide Repeat Expansion (genetics), basal ganglia, magnetic resonance imaging.
- MESH :
- chemical , genetics : TATA-Box Binding Protein.
- etiology : Cognition Disorders.
- genetics : Spinocerebellar Ataxias, Trinucleotide Repeat Expansion.
- pathology : Putamen, Spinocerebellar Ataxias.
- physiopathology : Spinocerebellar Ataxias.
- Female, Humans, Magnetic Resonance Imaging, Middle Aged, Phenotype.
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. © 2005 Movement Disorder Society
Url:
DOI: 10.1002/mds.20529
Affiliations:
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Loy</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>National Hospital for Neurology and Neurosurgery, 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="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G." last="Sweeney">Mary G. Sweeney</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurogenetics, National Hospital for Neurology and Neurosurgery, 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="Davis, Mary B" sort="Davis, Mary B" uniqKey="Davis M" first="Mary B." last="Davis">Mary B. 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Sawle</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurology, Queens Medical Centre, Nottingham</wicri:regionArea><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"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Reta Lila Weston Institute of Neurological Studies, Royal Free and University College London Medical School, London</wicri:regionArea><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"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurodegenerative Diseases, Institute of Neurology, 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="2005-11">2005-11</date><biblScope unit="vol">20</biblScope><biblScope unit="issue">11</biblScope><biblScope unit="page" from="1521">1521</biblScope><biblScope unit="page" to="1523">1523</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">BF4518ECD4984A5C7D44630E9AD023D86A19BC00</idno><idno type="DOI">10.1002/mds.20529</idno><idno type="ArticleID">MDS20529</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Basal ganglion</term><term>Cognition Disorders (etiology)</term><term>Female</term><term>Humans</term><term>Hyperintensity</term><term>Magnetic Resonance Imaging</term><term>Middle Aged</term><term>Nervous system diseases</term><term>Nuclear magnetic resonance imaging</term><term>Phenotype</term><term>Putamen (pathology)</term><term>SCA‐17</term><term>Spinocerebellar Ataxias (genetics)</term><term>Spinocerebellar Ataxias (pathology)</term><term>Spinocerebellar Ataxias (physiopathology)</term><term>Spinocerebellar ataxia</term><term>TATA-Box Binding Protein (genetics)</term><term>Trinucleotide Repeat Expansion (genetics)</term><term>basal ganglia</term><term>magnetic resonance imaging</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>TATA-Box Binding Protein</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Cognition Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Spinocerebellar Ataxias</term><term>Trinucleotide Repeat Expansion</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Putamen</term><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Female</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Middle Aged</term><term>Phenotype</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Ataxie spinocérébelleuse</term><term>Hyperintensité</term><term>Imagerie RMN</term><term>Noyau gris central</term><term>Phénotype</term><term>Système nerveux pathologie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></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. © 2005 Movement Disorder Society</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)
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