MovDisordV3, Main, Exploration, bibRecord, 004000

Phenotypic features of Huntington's disease‐like 2

Identifieur interne : 004000 ( Main/Exploration ); précédent : 003F99; suivant : 004001

Phenotypic 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.

RBID : ISTEX:1AC6B0FB1C2F47A8829BD3B23627D39F5B6A115B

Descripteurs français

Pascal (Inist)
- Acanthocytose, Chorée Huntington, Chorée syndrome, Diagnostic différentiel, Dystonie, Etude familiale, Homme, Inclusion cellulaire, Neurone, Phénotype.
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:

https://api.istex.fr/document/1AC6B0FB1C2F47A8829BD3B23627D39F5B6A115B/fulltext/pdf

DOI: 10.1002/mds.10587

Affiliations:

Le document en format XML

<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Phenotypic features of Huntington's disease‐like 2</title>
<author><name sortKey="Walker, Ruth H" sort="Walker, Ruth H" uniqKey="Walker R" first="Ruth H." last="Walker">Ruth H. Walker</name>
</author>
<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
<affiliation><country>États-Unis</country>
<placeName><settlement type="city">Houston</settlement>
<region type="state">Texas</region>
</placeName>
<orgName type="university" n="3">Baylor College of Medicine</orgName>
</affiliation>
</author>
<author><name sortKey="O Hearn, Elizabeth" sort="O Hearn, Elizabeth" uniqKey="O Hearn E" first="Elizabeth" last="O'Hearn">Elizabeth O'Hearn</name>
</author>
<author><name sortKey="Margolis, Russell L" sort="Margolis, Russell L" uniqKey="Margolis R" first="Russell L." last="Margolis">Russell L. Margolis</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:1AC6B0FB1C2F47A8829BD3B23627D39F5B6A115B</idno>
<date when="2003" year="2003">2003</date>
<idno type="doi">10.1002/mds.10587</idno>
<idno type="url">https://api.istex.fr/document/1AC6B0FB1C2F47A8829BD3B23627D39F5B6A115B/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">003866</idno>
<idno type="wicri:Area/Istex/Curation">003866</idno>
<idno type="wicri:Area/Istex/Checkpoint">002930</idno>
<idno type="wicri:doubleKey">0885-3185:2003:Walker R:phenotypic:features:of</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:14673892</idno>
<idno type="wicri:Area/PubMed/Corpus">003596</idno>
<idno type="wicri:Area/PubMed/Curation">003596</idno>
<idno type="wicri:Area/PubMed/Checkpoint">003692</idno>
<idno type="wicri:Area/Ncbi/Merge">000C68</idno>
<idno type="wicri:Area/Ncbi/Curation">000C68</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">000C68</idno>
<idno type="wicri:doubleKey">0885-3185:2003:Walker R:phenotypic:features:of</idno>
<idno type="wicri:Area/Main/Merge">005C23</idno>
<idno type="wicri:source">INIST</idno>
<idno type="RBID">Pascal:04-0130510</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">002296</idno>
<idno type="wicri:Area/PascalFrancis/Curation">000A25</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">002369</idno>
<idno type="wicri:doubleKey">0885-3185:2003:Walker R:phenotypic:features:of</idno>
<idno type="wicri:Area/Main/Merge">005F15</idno>
<idno type="wicri:Area/Main/Curation">004000</idno>
<idno type="wicri:Area/Main/Exploration">004000</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Phenotypic features of Huntington's disease‐like 2</title>
<author><name sortKey="Walker, Ruth H" sort="Walker, Ruth H" uniqKey="Walker R" first="Ruth H." last="Walker">Ruth H. Walker</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Veterans Affairs Medical Center, Bronx Mount Sinai School of Medicine, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Baylor College of Medicine, Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Houston, Texas</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
<placeName><settlement type="city">Houston</settlement>
<region type="state">Texas</region>
</placeName>
<orgName type="university" n="3">Baylor College of Medicine</orgName>
</affiliation>
</author>
<author><name sortKey="O Hearn, Elizabeth" sort="O Hearn, Elizabeth" uniqKey="O Hearn E" first="Elizabeth" last="O'Hearn">Elizabeth O'Hearn</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology and Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Margolis, Russell L" sort="Margolis, Russell L" uniqKey="Margolis R" first="Russell L." last="Margolis">Russell L. Margolis</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<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>Acanthocytosis</term>
<term>Adult</term>
<term>Atrophy (pathology)</term>
<term>Brain (pathology)</term>
<term>Cell inclusion</term>
<term>Chorea</term>
<term>Cognition Disorders (diagnosis)</term>
<term>Differential diagnostic</term>
<term>Dystonia</term>
<term>Family study</term>
<term>Female</term>
<term>Human</term>
<term>Humans</term>
<term>Huntington Disease (genetics)</term>
<term>Huntington disease</term>
<term>Huntington's disease‐like 2</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Neuron</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>
<keywords scheme="Pascal" xml:lang="fr"><term>Acanthocytose</term>
<term>Chorée Huntington</term>
<term>Chorée syndrome</term>
<term>Diagnostic différentiel</term>
<term>Dystonie</term>
<term>Etude familiale</term>
<term>Homme</term>
<term>Inclusion cellulaire</term>
<term>Neurone</term>
<term>Phénotype</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</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>
<affiliations><list><country><li>États-Unis</li>
</country>
<region><li>Maryland</li>
<li>Texas</li>
<li>État de New York</li>
</region>
<settlement><li>Houston</li>
</settlement>
<orgName><li>Baylor College of Medicine</li>
</orgName>
</list>
<tree><country name="États-Unis"><region name="État de New York"><name sortKey="Walker, Ruth H" sort="Walker, Ruth H" uniqKey="Walker R" first="Ruth H." last="Walker">Ruth H. Walker</name>
</region>
<name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
<name sortKey="Margolis, Russell L" sort="Margolis, Russell L" uniqKey="Margolis R" first="Russell L." last="Margolis">Russell L. Margolis</name>
<name sortKey="O Hearn, Elizabeth" sort="O Hearn, Elizabeth" uniqKey="O Hearn E" first="Elizabeth" last="O'Hearn">Elizabeth O'Hearn</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 004000 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 004000 | 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:1AC6B0FB1C2F47A8829BD3B23627D39F5B6A115B
   |texte=   Phenotypic features of Huntington's disease‐like 2
}}

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)

Phenotypic features of Huntington's disease‐like 2

Phenotypic features of Huntington's disease‐like 2

Source :

Descripteurs français

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.