MovDisordV3, Main, Exploration, bibRecord, 002A81

Chorea-Acanthocytosis : Report of Two Brazilian Cases

Identifieur interne : 002A81 ( Main/Exploration ); précédent : 002A80; suivant : 002A82

Chorea-Acanthocytosis : Report of Two Brazilian Cases

Auteurs : Guilherme Riccioppo Rodrigues [Brésil] ; Ruth H. Walker [États-Unis] ; Benedikt Bader [Allemagne] ; Adrian Danek [Allemagne] ; Wilson Jr Marques [Brésil] ; Vitor Tumas [Brésil]

Source :

Movement disorders [ 0885-3185 ] ; 2008.

RBID : Pascal:08-0536655

Descripteurs français

Pascal (Inist)
- Syndrome choréique, Acanthocytose, Pathologie du système nerveux, Etude cas.

English descriptors

KwdEn :
- Acanthocytosis, Case study, Chorea, Nervous system diseases.

Abstract

Chorea-acanthocytosis (ChAc) is a neurodegenerative disorder characterized by chorea, neuropsychiatric disturbances and acanthocytosis, caused by mutations of VPSI3A. This gene produces the protein chorein which is absent in patients with ChAc on Western blot assay. We report the first two Brazilian patients with ChAc confirmed by chorein detection. Patient 1 is a 36-year-old man with chorea, epilepsy, myopathy, and suicidal ideation. Patient 2 is a 60-year-old woman with a 30 year history of psychiatric disturbances, epilepsy, choreic movements, and myopathy. Both patients had acanthocytosis, elevated creatine kinase (CK), and absence of chorein on Western blot analysis. The presence of chorea and neuropsychiatric disturbances associated with elevated CK levels, epilepsy, hyporeflexia, and acanthocytosis suggests the diagnosis of ChAc. Chorein assay of peripheral blood confirms the diagnosis.

Affiliations:

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

to stream PascalFrancis, to step Corpus: 001073
to stream PascalFrancis, to step Curation: 001C46
to stream PascalFrancis, to step Checkpoint: 001329
to stream Main, to step Merge: 003937
to stream Main, to step Curation: 002A81

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Chorea-Acanthocytosis : Report of Two Brazilian Cases</title>
<author><name sortKey="Riccioppo Rodrigues, Guilherme" sort="Riccioppo Rodrigues, Guilherme" uniqKey="Riccioppo Rodrigues G" first="Guilherme" last="Riccioppo Rodrigues">Guilherme Riccioppo Rodrigues</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Ribeirao Preto School of Medicine</s1>
<s2>Ribeirao Preto</s2>
<s3>BRA</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Brésil</country>
<wicri:noRegion>Ribeirao Preto</wicri:noRegion>
</affiliation>
</author>
<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"><inist:fA14 i1="02"><s1>Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine</s1>
<s2>New York</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bader, Benedikt" sort="Bader, Benedikt" uniqKey="Bader B" first="Benedikt" last="Bader">Benedikt Bader</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Neurology, Ludwig-Maximilians-Universitdt</s1>
<s2>München</s2>
<s3>DEU</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Neurology, Ludwig-Maximilians-Universitdt</s1>
<s2>München</s2>
<s3>DEU</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Marques, Wilson Jr" sort="Marques, Wilson Jr" uniqKey="Marques W" first="Wilson Jr" last="Marques">Wilson Jr Marques</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Ribeirao Preto School of Medicine</s1>
<s2>Ribeirao Preto</s2>
<s3>BRA</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Brésil</country>
<wicri:noRegion>Ribeirao Preto</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tumas, Vitor" sort="Tumas, Vitor" uniqKey="Tumas V" first="Vitor" last="Tumas">Vitor Tumas</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Ribeirao Preto School of Medicine</s1>
<s2>Ribeirao Preto</s2>
<s3>BRA</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Brésil</country>
<wicri:noRegion>Ribeirao Preto</wicri:noRegion>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">08-0536655</idno>
<date when="2008">2008</date>
<idno type="stanalyst">PASCAL 08-0536655 INIST</idno>
<idno type="RBID">Pascal:08-0536655</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">001073</idno>
<idno type="wicri:Area/PascalFrancis/Curation">001C46</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">001329</idno>
<idno type="wicri:doubleKey">0885-3185:2008:Riccioppo Rodrigues G:chorea:acanthocytosis:report</idno>
<idno type="wicri:Area/Main/Merge">003937</idno>
<idno type="wicri:Area/Main/Curation">002A81</idno>
<idno type="wicri:Area/Main/Exploration">002A81</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Chorea-Acanthocytosis : Report of Two Brazilian Cases</title>
<author><name sortKey="Riccioppo Rodrigues, Guilherme" sort="Riccioppo Rodrigues, Guilherme" uniqKey="Riccioppo Rodrigues G" first="Guilherme" last="Riccioppo Rodrigues">Guilherme Riccioppo Rodrigues</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Ribeirao Preto School of Medicine</s1>
<s2>Ribeirao Preto</s2>
<s3>BRA</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Brésil</country>
<wicri:noRegion>Ribeirao Preto</wicri:noRegion>
</affiliation>
</author>
<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"><inist:fA14 i1="02"><s1>Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine</s1>
<s2>New York</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bader, Benedikt" sort="Bader, Benedikt" uniqKey="Bader B" first="Benedikt" last="Bader">Benedikt Bader</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Neurology, Ludwig-Maximilians-Universitdt</s1>
<s2>München</s2>
<s3>DEU</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Neurology, Ludwig-Maximilians-Universitdt</s1>
<s2>München</s2>
<s3>DEU</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Marques, Wilson Jr" sort="Marques, Wilson Jr" uniqKey="Marques W" first="Wilson Jr" last="Marques">Wilson Jr Marques</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Ribeirao Preto School of Medicine</s1>
<s2>Ribeirao Preto</s2>
<s3>BRA</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Brésil</country>
<wicri:noRegion>Ribeirao Preto</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tumas, Vitor" sort="Tumas, Vitor" uniqKey="Tumas V" first="Vitor" last="Tumas">Vitor Tumas</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Ribeirao Preto School of Medicine</s1>
<s2>Ribeirao Preto</s2>
<s3>BRA</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Brésil</country>
<wicri:noRegion>Ribeirao Preto</wicri:noRegion>
</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="2008">2008</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>Acanthocytosis</term>
<term>Case study</term>
<term>Chorea</term>
<term>Nervous system diseases</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Syndrome choréique</term>
<term>Acanthocytose</term>
<term>Pathologie du   système nerveux</term>
<term>Etude cas</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Chorea-acanthocytosis (ChAc) is a neurodegenerative disorder characterized by chorea, neuropsychiatric disturbances and acanthocytosis, caused by mutations of VPSI3A. This gene produces the protein chorein which is absent in patients with ChAc on Western blot assay. We report the first two Brazilian patients with ChAc confirmed by chorein detection. Patient 1 is a 36-year-old man with chorea, epilepsy, myopathy, and suicidal ideation. Patient 2 is a 60-year-old woman with a 30 year history of psychiatric disturbances, epilepsy, choreic movements, and myopathy. Both patients had acanthocytosis, elevated creatine kinase (CK), and absence of chorein on Western blot analysis. The presence of chorea and neuropsychiatric disturbances associated with elevated CK levels, epilepsy, hyporeflexia, and acanthocytosis suggests the diagnosis of ChAc. Chorein assay of peripheral blood confirms the diagnosis.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Brésil</li>
<li>États-Unis</li>
</country>
<region><li>Bavière</li>
<li>District de Haute-Bavière</li>
<li>État de New York</li>
</region>
<settlement><li>Munich</li>
</settlement>
</list>
<tree><country name="Brésil"><noRegion><name sortKey="Riccioppo Rodrigues, Guilherme" sort="Riccioppo Rodrigues, Guilherme" uniqKey="Riccioppo Rodrigues G" first="Guilherme" last="Riccioppo Rodrigues">Guilherme Riccioppo Rodrigues</name>
</noRegion>
<name sortKey="Marques, Wilson Jr" sort="Marques, Wilson Jr" uniqKey="Marques W" first="Wilson Jr" last="Marques">Wilson Jr Marques</name>
<name sortKey="Tumas, Vitor" sort="Tumas, Vitor" uniqKey="Tumas V" first="Vitor" last="Tumas">Vitor Tumas</name>
</country>
<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>
</country>
<country name="Allemagne"><region name="Bavière"><name sortKey="Bader, Benedikt" sort="Bader, Benedikt" uniqKey="Bader B" first="Benedikt" last="Bader">Benedikt Bader</name>
</region>
<name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</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 002A81 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 002A81 | 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=     Pascal:08-0536655
   |texte=   Chorea-Acanthocytosis : Report of Two Brazilian Cases
}}

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)

Chorea-Acanthocytosis : Report of Two Brazilian Cases

Chorea-Acanthocytosis : Report of Two Brazilian Cases

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