Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion
Identifieur interne : 004F95 ( Main/Exploration ); précédent : 004F94; suivant : 004F96Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion
Auteurs : Hanna [Royaume-Uni] ; Mary B. Davis [Royaume-Uni] ; Mary G. Sweeney [Royaume-Uni] ; Madi Noursadeghi [Royaume-Uni] ; Christopher J. Ellis ; Perry Elliot [Royaume-Uni] ; Nicholas W. Wood [Royaume-Uni] ; C. David Marsden [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 1998-03.
English descriptors
- KwdEn :
- Adolescent, Adult, Chorea, Chorea (genetics), Chromosome Aberrations (genetics), Chromosome Disorders, Frataxin, Friedreich Ataxia (genetics), Friedreich's ataxia, Genes, Recessive (genetics), Genotype, Humans, Introns, Iron-Binding Proteins, Male, Neurologic Examination, Phosphotransferases (Alcohol Group Acceptor) (genetics), Trinucleotide Repeats (genetics).
- MESH :
- chemical , genetics : Phosphotransferases (Alcohol Group Acceptor).
- chemical : Iron-Binding Proteins.
- genetics : Chorea, Chromosome Aberrations, Friedreich Ataxia, Genes, Recessive, Trinucleotide Repeats.
- Adolescent, Adult, Chromosome Disorders, Genotype, Humans, Introns, Male, Neurologic Examination.
Abstract
Recently, a trinucleotide repeat expansion in intron l of the frataxin gene on chromosome 9p13 has been identified as the genetic defect in Friedreich's ataxia (FA). We have identified two patients exhibiting generalized chorea in the absence of cerebellar signs who were homozygous for this intron 1 expansion. Chorea as a rare manifestation of FA has previously been controversial. This is the first report of chorea in patients confirmed to have the FA genetic abnormality and broadens further the clinical phenotype associated with the FA genotype.
Url:
DOI: 10.1002/mds.870130223
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 003993
- to stream Istex, to step Curation: 003993
- to stream Istex, to step Checkpoint: 003730
- to stream PubMed, to step Corpus: 004462
- to stream PubMed, to step Curation: 004462
- to stream PubMed, to step Checkpoint: 004425
- to stream Ncbi, to step Merge: 004F22
- to stream Ncbi, to step Curation: 004F22
- to stream Ncbi, to step Checkpoint: 004F22
- to stream Main, to step Merge: 007F07
- to stream Main, to step Curation: 004F95
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion</title><author><name sortKey="Hanna" sort="Hanna" uniqKey="Hanna" last="Hanna">Hanna</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="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G." last="Sweeney">Mary G. Sweeney</name></author><author><name sortKey="Noursadeghi, Madi" sort="Noursadeghi, Madi" uniqKey="Noursadeghi M" first="Madi" last="Noursadeghi">Madi Noursadeghi</name></author><author><name sortKey="Ellis, Christopher J" sort="Ellis, Christopher J" uniqKey="Ellis C" first="Christopher J." last="Ellis">Christopher J. Ellis</name></author><author><name sortKey="Elliot, Perry" sort="Elliot, Perry" uniqKey="Elliot P" first="Perry" last="Elliot">Perry Elliot</name></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name></author><author><name sortKey="David Marsden, C" sort="David Marsden, C" uniqKey="David Marsden C" first="C." last="David Marsden">C. David Marsden</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:9F90F8DC128D85FC151667AECCE4C42AFE0A0ACD</idno><date when="1998" year="1998">1998</date><idno type="doi">10.1002/mds.870130223</idno><idno type="url">https://api.istex.fr/document/9F90F8DC128D85FC151667AECCE4C42AFE0A0ACD/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">003993</idno><idno type="wicri:Area/Istex/Curation">003993</idno><idno type="wicri:Area/Istex/Checkpoint">003730</idno><idno type="wicri:doubleKey">0885-3185:1998:Hanna:generalized:chorea:in</idno><idno type="wicri:source">PubMed</idno><idno type="RBID">pubmed:9539351</idno><idno type="wicri:Area/PubMed/Corpus">004462</idno><idno type="wicri:Area/PubMed/Curation">004462</idno><idno type="wicri:Area/PubMed/Checkpoint">004425</idno><idno type="wicri:Area/Ncbi/Merge">004F22</idno><idno type="wicri:Area/Ncbi/Curation">004F22</idno><idno type="wicri:Area/Ncbi/Checkpoint">004F22</idno><idno type="wicri:doubleKey">0885-3185:1998:Hanna M:generalized:chorea:in</idno><idno type="wicri:Area/Main/Merge">007F07</idno><idno type="wicri:Area/Main/Curation">004F95</idno><idno type="wicri:Area/Main/Exploration">004F95</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion</title><author><name sortKey="Hanna" sort="Hanna" uniqKey="Hanna" last="Hanna">Hanna</name><affiliation wicri:level="3"><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><wicri:orgArea>Department of Clinical Neurology, Institute of Neurology, Queen Square</wicri:orgArea></affiliation></author><author><name sortKey="Davis, Mary B" sort="Davis, Mary B" uniqKey="Davis M" first="Mary B." last="Davis">Mary B. Davis</name><affiliation wicri:level="3"><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><wicri:orgArea>Department of Clinical Neurology, Institute of Neurology, Queen Square</wicri:orgArea></affiliation></author><author><name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G." last="Sweeney">Mary G. Sweeney</name><affiliation wicri:level="3"><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><wicri:orgArea>Department of Clinical Neurology, Institute of Neurology, Queen Square</wicri:orgArea></affiliation></author><author><name sortKey="Noursadeghi, Madi" sort="Noursadeghi, Madi" uniqKey="Noursadeghi M" first="Madi" last="Noursadeghi">Madi Noursadeghi</name><affiliation wicri:level="3"><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><wicri:orgArea>Department of Clinical Neurology, Institute of Neurology, Queen Square</wicri:orgArea></affiliation></author><author><name sortKey="Ellis, Christopher J" sort="Ellis, Christopher J" uniqKey="Ellis C" first="Christopher J." last="Ellis">Christopher J. Ellis</name><affiliation><wicri:noCountry code="subField">Weymouth Dorset</wicri:noCountry></affiliation></author><author><name sortKey="Elliot, Perry" sort="Elliot, Perry" uniqKey="Elliot P" first="Perry" last="Elliot">Perry Elliot</name><affiliation wicri:level="3"><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><wicri:orgArea>The Department of Cardiology, St Georges Hospital</wicri:orgArea></affiliation></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name><affiliation wicri:level="3"><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><wicri:orgArea>Department of Clinical Neurology, Institute of Neurology, Queen Square</wicri:orgArea></affiliation></author><author><name sortKey="David Marsden, C" sort="David Marsden, C" uniqKey="David Marsden C" first="C." last="David Marsden">C. David Marsden</name><affiliation wicri:level="3"><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><wicri:orgArea>Department of Clinical Neurology, Institute of Neurology, Queen Square</wicri:orgArea></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="1998-03">1998-03</date><biblScope unit="vol">13</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="339">339</biblScope><biblScope unit="page" to="340">340</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">9F90F8DC128D85FC151667AECCE4C42AFE0A0ACD</idno><idno type="DOI">10.1002/mds.870130223</idno><idno type="ArticleID">MDS870130223</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Chorea</term><term>Chorea (genetics)</term><term>Chromosome Aberrations (genetics)</term><term>Chromosome Disorders</term><term>Frataxin</term><term>Friedreich Ataxia (genetics)</term><term>Friedreich's ataxia</term><term>Genes, Recessive (genetics)</term><term>Genotype</term><term>Humans</term><term>Introns</term><term>Iron-Binding Proteins</term><term>Male</term><term>Neurologic Examination</term><term>Phosphotransferases (Alcohol Group Acceptor) (genetics)</term><term>Trinucleotide Repeats (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Phosphotransferases (Alcohol Group Acceptor)</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Iron-Binding Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chorea</term><term>Chromosome Aberrations</term><term>Friedreich Ataxia</term><term>Genes, Recessive</term><term>Trinucleotide Repeats</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Chromosome Disorders</term><term>Genotype</term><term>Humans</term><term>Introns</term><term>Male</term><term>Neurologic Examination</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Recently, a trinucleotide repeat expansion in intron l of the frataxin gene on chromosome 9p13 has been identified as the genetic defect in Friedreich's ataxia (FA). We have identified two patients exhibiting generalized chorea in the absence of cerebellar signs who were homozygous for this intron 1 expansion. Chorea as a rare manifestation of FA has previously been controversial. This is the first report of chorea in patients confirmed to have the FA genetic abnormality and broadens further the clinical phenotype associated with the FA genotype.</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><noCountry><name sortKey="Ellis, Christopher J" sort="Ellis, Christopher J" uniqKey="Ellis C" first="Christopher J." last="Ellis">Christopher J. Ellis</name></noCountry><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Hanna" sort="Hanna" uniqKey="Hanna" last="Hanna">Hanna</name></region><name sortKey="David Marsden, C" sort="David Marsden, C" uniqKey="David Marsden C" first="C." last="David Marsden">C. David Marsden</name><name sortKey="Davis, Mary B" sort="Davis, Mary B" uniqKey="Davis M" first="Mary B." last="Davis">Mary B. Davis</name><name sortKey="Elliot, Perry" sort="Elliot, Perry" uniqKey="Elliot P" first="Perry" last="Elliot">Perry Elliot</name><name sortKey="Noursadeghi, Madi" sort="Noursadeghi, Madi" uniqKey="Noursadeghi M" first="Madi" last="Noursadeghi">Madi Noursadeghi</name><name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G." last="Sweeney">Mary G. Sweeney</name><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</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 004F95 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 004F95 | 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:9F90F8DC128D85FC151667AECCE4C42AFE0A0ACD
|texte= Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion
}}
| This area was generated with Dilib version V0.6.23. |  |