Phenotypic features of Huntington's disease‐like 2
Identifieur interne : 004000 ( Main/Curation ); précédent : 003F99; suivant : 004001Phenotypic features of Huntington's disease‐like 2
Auteurs : Ruth H. Walker [États-Unis] ; Joseph Jankovic [États-Unis] ; Elizabeth O'Hearn [États-Unis] ; Russell L. Margolis [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2003-12.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Acanthocytosis, Adult, Atrophy (pathology), Brain (pathology), Cell inclusion, Chorea, Cognition Disorders (diagnosis), Differential diagnostic, Dystonia, Family study, Female, Human, Humans, Huntington Disease (genetics), Huntington disease, Huntington's disease‐like 2, Male, Middle Aged, Neuron, Neuropsychological Tests, Phenotype, Trinucleotide Repeat Expansion (genetics), Videotape Recording, chorea, dystonia, parkinsonism.
- MESH :
- diagnosis : Cognition Disorders.
- genetics : Huntington Disease, Trinucleotide Repeat Expansion.
- pathology : Atrophy, Brain.
- Adult, Female, Humans, Male, Middle Aged, Neuropsychological Tests, Phenotype, Videotape Recording.
Abstract
Huntington's disease‐like 2 is an autosomal dominantly inherited disorder due to an expansion of trinucleotide repeats. It resembles classic Huntington's disease in clinical phenotype, inheritance pattern, and neuropathological features. We highlight the clinical features of this disorder, including chorea, dystonia, parkinsonism, and cognitive deficits. © 2003 Movement Disorder Society
Url:
DOI: 10.1002/mds.10587
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<wicri:regionArea>Department of Psychiatry and Program in Cellular and Molecular Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland</wicri:regionArea>
<placeName><region type="state">Maryland</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="2003-12">2003-12</date>
<biblScope unit="vol">18</biblScope>
<biblScope unit="issue">12</biblScope>
<biblScope unit="page" from="1527">1527</biblScope>
<biblScope unit="page" to="1530">1530</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">1AC6B0FB1C2F47A8829BD3B23627D39F5B6A115B</idno>
<idno type="DOI">10.1002/mds.10587</idno>
<idno type="ArticleID">MDS10587</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Atrophy (pathology)</term>
<term>Brain (pathology)</term>
<term>Cognition Disorders (diagnosis)</term>
<term>Female</term>
<term>Humans</term>
<term>Huntington Disease (genetics)</term>
<term>Huntington's disease‐like 2</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Neuropsychological Tests</term>
<term>Phenotype</term>
<term>Trinucleotide Repeat Expansion (genetics)</term>
<term>Videotape Recording</term>
<term>chorea</term>
<term>dystonia</term>
<term>parkinsonism</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Cognition Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Huntington Disease</term>
<term>Trinucleotide Repeat Expansion</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Atrophy</term>
<term>Brain</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Neuropsychological Tests</term>
<term>Phenotype</term>
<term>Videotape Recording</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Huntington's disease‐like 2 is an autosomal dominantly inherited disorder due to an expansion of trinucleotide repeats. It resembles classic Huntington's disease in clinical phenotype, inheritance pattern, and neuropathological features. We highlight the clinical features of this disorder, including chorea, dystonia, parkinsonism, and cognitive deficits. © 2003 Movement Disorder Society</div>
</front>
</TEI>
</ISTEX>
</double>
</record>
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