Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging.
Identifieur interne : 002F62 ( PubMed/Corpus ); précédent : 002F61; suivant : 002F63Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging.
Auteurs : Clement T. Loy ; Mary G. Sweeney ; Mary B. Davis ; Adrian J. Wills ; Guy V. Sawle ; Andrew J. Lees ; Sarah J. TabriziSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2005.
English descriptors
- KwdEn :
- Cognition Disorders (etiology), Female, Humans, Magnetic Resonance Imaging, Middle Aged, Phenotype, Putamen (pathology), Spinocerebellar Ataxias (genetics), Spinocerebellar Ataxias (pathology), Spinocerebellar Ataxias (physiopathology), TATA-Box Binding Protein (genetics), Trinucleotide Repeat Expansion (genetics).
- 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.
DOI: 10.1002/mds.20529
PubMed: 16037935
Links to Exploration step
pubmed:16037935Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">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><nlm:affiliation>National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G" last="Sweeney">Mary G. Sweeney</name>
</author>
<author><name sortKey="Davis, Mary B" sort="Davis, Mary B" uniqKey="Davis M" first="Mary B" last="Davis">Mary B. Davis</name>
</author>
<author><name sortKey="Wills, Adrian J" sort="Wills, Adrian J" uniqKey="Wills A" first="Adrian J" last="Wills">Adrian J. Wills</name>
</author>
<author><name sortKey="Sawle, Guy V" sort="Sawle, Guy V" uniqKey="Sawle G" first="Guy V" last="Sawle">Guy V. Sawle</name>
</author>
<author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</name>
</author>
<author><name sortKey="Tabrizi, Sarah J" sort="Tabrizi, Sarah J" uniqKey="Tabrizi S" first="Sarah J" last="Tabrizi">Sarah J. Tabrizi</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2005">2005</date>
<idno type="doi">10.1002/mds.20529</idno>
<idno type="RBID">pubmed:16037935</idno>
<idno type="pmid">16037935</idno>
<idno type="wicri:Area/PubMed/Corpus">002F62</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">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><nlm:affiliation>National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G" last="Sweeney">Mary G. Sweeney</name>
</author>
<author><name sortKey="Davis, Mary B" sort="Davis, Mary B" uniqKey="Davis M" first="Mary B" last="Davis">Mary B. Davis</name>
</author>
<author><name sortKey="Wills, Adrian J" sort="Wills, Adrian J" uniqKey="Wills A" first="Adrian J" last="Wills">Adrian J. Wills</name>
</author>
<author><name sortKey="Sawle, Guy V" sort="Sawle, Guy V" uniqKey="Sawle G" first="Guy V" last="Sawle">Guy V. Sawle</name>
</author>
<author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</name>
</author>
<author><name sortKey="Tabrizi, Sarah J" sort="Tabrizi, Sarah J" uniqKey="Tabrizi S" first="Sarah J" last="Tabrizi">Sarah J. Tabrizi</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="2005" type="published">2005</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Cognition Disorders (etiology)</term>
<term>Female</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Middle Aged</term>
<term>Phenotype</term>
<term>Putamen (pathology)</term>
<term>Spinocerebellar Ataxias (genetics)</term>
<term>Spinocerebellar Ataxias (pathology)</term>
<term>Spinocerebellar Ataxias (physiopathology)</term>
<term>TATA-Box Binding Protein (genetics)</term>
<term>Trinucleotide Repeat Expansion (genetics)</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>
</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>
<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">16037935</PMID>
<DateCreated><Year>2005</Year>
<Month>11</Month>
<Day>02</Day>
</DateCreated>
<DateCompleted><Year>2006</Year>
<Month>02</Month>
<Day>14</Day>
</DateCompleted>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN>
<JournalIssue CitedMedium="Print"><Volume>20</Volume>
<Issue>11</Issue>
<PubDate><Year>2005</Year>
<Month>Nov</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging.</ArticleTitle>
<Pagination><MedlinePgn>1521-3</MedlinePgn>
</Pagination>
<Abstract><AbstractText>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.</AbstractText>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Loy</LastName>
<ForeName>Clement T</ForeName>
<Initials>CT</Initials>
<AffiliationInfo><Affiliation>National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Sweeney</LastName>
<ForeName>Mary G</ForeName>
<Initials>MG</Initials>
</Author>
<Author ValidYN="Y"><LastName>Davis</LastName>
<ForeName>Mary B</ForeName>
<Initials>MB</Initials>
</Author>
<Author ValidYN="Y"><LastName>Wills</LastName>
<ForeName>Adrian J</ForeName>
<Initials>AJ</Initials>
</Author>
<Author ValidYN="Y"><LastName>Sawle</LastName>
<ForeName>Guy V</ForeName>
<Initials>GV</Initials>
</Author>
<Author ValidYN="Y"><LastName>Lees</LastName>
<ForeName>Andrew J</ForeName>
<Initials>AJ</Initials>
</Author>
<Author ValidYN="Y"><LastName>Tabrizi</LastName>
<ForeName>Sarah J</ForeName>
<Initials>SJ</Initials>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType>
<PublicationType UI="D016428">Journal Article</PublicationType>
</PublicationTypeList>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D035181">TATA-Box Binding Protein</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003072">Cognition Disorders</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000209">etiology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D008279">Magnetic Resonance Imaging</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D010641">Phenotype</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D011699">Putamen</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000473">pathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020754">Spinocerebellar Ataxias</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000473">pathology</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D035181">TATA-Box Binding Protein</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D019680">Trinucleotide Repeat Expansion</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2005</Year>
<Month>7</Month>
<Day>23</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2006</Year>
<Month>2</Month>
<Day>16</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2005</Year>
<Month>7</Month>
<Day>23</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="doi">10.1002/mds.20529</ArticleId>
<ArticleId IdType="pubmed">16037935</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PubMed/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002F62 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd -nk 002F62 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= PubMed |étape= Corpus |type= RBID |clé= pubmed:16037935 |texte= Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging. }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/RBID.i -Sk "pubmed:16037935" \ | HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd \ | NlmPubMed2Wicri -a MovDisordV3
![]() | This area was generated with Dilib version V0.6.23. | ![]() |