Chorea-acanthocytosis: report of two Brazilian cases.
Identifieur interne : 002330 ( Ncbi/Checkpoint ); précédent : 002329; suivant : 002331Chorea-acanthocytosis: report of two Brazilian cases.
Auteurs : Guilherme Riccioppo Rodrigues [Brésil] ; Ruth H. Walker ; Benedikt Bader ; Adrian Danek ; Wilson Marques ; Vitor TumasSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
Descripteurs français
- Wicri :
- geographic : Brésil.
English descriptors
- KwdEn :
- MESH :
- chemical , metabolism : Vesicular Transport Proteins.
- geographic : Brazil.
- complications : Chorea.
- methods : Magnetic Resonance Imaging.
- pathology : Acanthocytes, Chorea.
- Adult, Female, Humans, Male.
Abstract
Chorea-acanthocytosis (ChAc) is a neurodegenerative disorder characterized by chorea, neuropsychiatric disturbances and acanthocytosis, caused by mutations of VPS13A. 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.
DOI: 10.1002/mds.22305
PubMed: 18785241
Affiliations:
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Walker</name></author><author><name sortKey="Bader, Benedikt" sort="Bader, Benedikt" uniqKey="Bader B" first="Benedikt" last="Bader">Benedikt Bader</name></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name></author><author><name sortKey="Marques, Wilson" sort="Marques, Wilson" uniqKey="Marques W" first="Wilson" last="Marques">Wilson Marques</name></author><author><name sortKey="Tumas, Vitor" sort="Tumas, Vitor" uniqKey="Tumas V" first="Vitor" last="Tumas">Vitor Tumas</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2008">2008</date><idno type="doi">10.1002/mds.22305</idno><idno type="RBID">pubmed:18785241</idno><idno type="pmid">18785241</idno><idno type="wicri:Area/PubMed/Corpus">002033</idno><idno type="wicri:Area/PubMed/Curation">002033</idno><idno type="wicri:Area/PubMed/Checkpoint">002387</idno><idno type="wicri:Area/Ncbi/Merge">002330</idno><idno type="wicri:Area/Ncbi/Curation">002330</idno><idno type="wicri:Area/Ncbi/Checkpoint">002330</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Chorea-acanthocytosis: report of two Brazilian cases.</title><author><name sortKey="Rodrigues, Guilherme Riccioppo" sort="Rodrigues, Guilherme Riccioppo" uniqKey="Rodrigues G" first="Guilherme Riccioppo" last="Rodrigues">Guilherme Riccioppo Rodrigues</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, Brazil.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto</wicri:regionArea><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></author><author><name sortKey="Bader, Benedikt" sort="Bader, Benedikt" uniqKey="Bader B" first="Benedikt" last="Bader">Benedikt Bader</name></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name></author><author><name sortKey="Marques, Wilson" sort="Marques, Wilson" uniqKey="Marques W" first="Wilson" last="Marques">Wilson Marques</name></author><author><name sortKey="Tumas, Vitor" sort="Tumas, Vitor" uniqKey="Tumas V" first="Vitor" last="Tumas">Vitor Tumas</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2008" type="published">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Acanthocytes (pathology)</term><term>Adult</term><term>Brazil</term><term>Chorea (complications)</term><term>Chorea (pathology)</term><term>Female</term><term>Humans</term><term>Magnetic Resonance Imaging (methods)</term><term>Male</term><term>Vesicular Transport Proteins (metabolism)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Vesicular Transport Proteins</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Brazil</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Chorea</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Magnetic Resonance Imaging</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Acanthocytes</term><term>Chorea</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Female</term><term>Humans</term><term>Male</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Brésil</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 VPS13A. 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>Brésil</li></country></list><tree><noCountry><name sortKey="Bader, Benedikt" sort="Bader, Benedikt" uniqKey="Bader B" first="Benedikt" last="Bader">Benedikt Bader</name><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name><name sortKey="Marques, Wilson" sort="Marques, Wilson" uniqKey="Marques W" first="Wilson" last="Marques">Wilson Marques</name><name sortKey="Tumas, Vitor" sort="Tumas, Vitor" uniqKey="Tumas V" first="Vitor" last="Tumas">Vitor Tumas</name><name sortKey="Walker, Ruth H" sort="Walker, Ruth H" uniqKey="Walker R" first="Ruth H" last="Walker">Ruth H. Walker</name></noCountry><country name="Brésil"><noRegion><name sortKey="Rodrigues, Guilherme Riccioppo" sort="Rodrigues, Guilherme Riccioppo" uniqKey="Rodrigues G" first="Guilherme Riccioppo" last="Rodrigues">Guilherme Riccioppo Rodrigues</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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