The GTP-cyclohydrolase I gene in atypical Parkinsonian patients: a clinico-genetic study
Identifieur interne : 002E75 ( Main/Corpus ); précédent : 002E74; suivant : 002E76The GTP-cyclohydrolase I gene in atypical Parkinsonian patients: a clinico-genetic study
Auteurs : Oliver Bandmann ; Sue Daniel ; C. David Marsden ; Nicholas W. Wood ; Anita E. HardingSource :
- Journal of the Neurological Sciences [ 0022-510X ] ; 1996.
Abstract
GTP cyclohydrolase I (GTPCH) has recently been identified as the first causative gene for Dopa-responsive dystonia (DRD). DRD typically presents with dystonia in the lower limbs in childhood, but may produce an akinetic-rigid syndrome in middle and old age. We have sequenced the GTPCH gene in 29 Parkinsonian patients without a positive family history for DRD, but who shared at least one feature of the akinetic-rigid presentation of DRD: 23 patients had at least one living relative who also suffered from an akinetic-rigid syndrome; 2 patients had an abnormally mild course of their parkinsonism which was extremely dopa-responsive. DNA was also analysed from 4 brain samples of patients who were clinically diagnosed as suffering from Parkinson's disease, but then did not show any pathological findings at post mortem. No changes in the sequence of the GTPCH gene were detected. We conclude that so far there is no evidence that mutations of the GTPCH gene are responsible for the development of parkinsonism in patients without a positive family history of DRD.
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DOI: 10.1016/0022-510X(96)00098-6
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David Marsden</name><affiliation><mods:affiliation>University Department of Clinical Neurology (Neurogenetics and Movement Disorders Section), Institute of Neurology, Queen Square, London WC1N 3BG, UK</mods:affiliation></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><mods:affiliation>Corresponding author. Tel: +44 (171) 837 3611, x4255. Fax: +44 (171) 278 5616.</mods:affiliation></affiliation><affiliation><mods:affiliation>University Department of Clinical Neurology (Neurogenetics and Movement Disorders Section), Institute of Neurology, Queen Square, London WC1N 3BG, UK</mods:affiliation></affiliation></author><author><name sortKey="Harding, Anita E" sort="Harding, Anita E" uniqKey="Harding A" first="Anita E." last="Harding">Anita E. Harding</name><affiliation><mods:affiliation>University Department of Clinical Neurology (Neurogenetics and Movement Disorders Section), Institute of Neurology, Queen Square, London WC1N 3BG, UK</mods:affiliation></affiliation><affiliation><mods:affiliation>1 Deceased 11th September 95.</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:A3403516A4C49AF38D89C281B798FCCC8F8BFDB9</idno><date when="1996" year="1996">1996</date><idno type="doi">10.1016/0022-510X(96)00098-6</idno><idno type="url">https://api.istex.fr/document/A3403516A4C49AF38D89C281B798FCCC8F8BFDB9/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">002E75</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a">The GTP-cyclohydrolase I gene in atypical Parkinsonian patients: a clinico-genetic study</title><author><name sortKey="Bandmann, Oliver" sort="Bandmann, Oliver" uniqKey="Bandmann O" first="Oliver" last="Bandmann">Oliver Bandmann</name><affiliation><mods:affiliation>University Department of Clinical Neurology (Neurogenetics and Movement Disorders Section), Institute of Neurology, Queen Square, London WC1N 3BG, UK</mods:affiliation></affiliation></author><author><name sortKey="Daniel, Sue" sort="Daniel, Sue" uniqKey="Daniel S" first="Sue" last="Daniel">Sue Daniel</name><affiliation><mods:affiliation>Parkinson's Disease Society Brain Bank, Institute of Neurology, Queen Square, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Marsden, C David" sort="Marsden, C David" uniqKey="Marsden C" first="C. 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Harding</name><affiliation><mods:affiliation>University Department of Clinical Neurology (Neurogenetics and Movement Disorders Section), Institute of Neurology, Queen Square, London WC1N 3BG, UK</mods:affiliation></affiliation><affiliation><mods:affiliation>1 Deceased 11th September 95.</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of the Neurological Sciences</title><title level="j" type="abbrev">JNS</title><idno type="ISSN">0022-510X</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1996">1996</date><biblScope unit="volume">141</biblScope><biblScope unit="issue">1–2</biblScope><biblScope unit="page" from="27">27</biblScope><biblScope unit="page" to="32">32</biblScope></imprint><idno type="ISSN">0022-510X</idno></series><idno type="istex">A3403516A4C49AF38D89C281B798FCCC8F8BFDB9</idno><idno type="DOI">10.1016/0022-510X(96)00098-6</idno><idno type="PII">0022-510X(96)00098-6</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-510X</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">GTP cyclohydrolase I (GTPCH) has recently been identified as the first causative gene for Dopa-responsive dystonia (DRD). DRD typically presents with dystonia in the lower limbs in childhood, but may produce an akinetic-rigid syndrome in middle and old age. We have sequenced the GTPCH gene in 29 Parkinsonian patients without a positive family history for DRD, but who shared at least one feature of the akinetic-rigid presentation of DRD: 23 patients had at least one living relative who also suffered from an akinetic-rigid syndrome; 2 patients had an abnormally mild course of their parkinsonism which was extremely dopa-responsive. DNA was also analysed from 4 brain samples of patients who were clinically diagnosed as suffering from Parkinson's disease, but then did not show any pathological findings at post mortem. No changes in the sequence of the GTPCH gene were detected. We conclude that so far there is no evidence that mutations of the GTPCH gene are responsible for the development of parkinsonism in patients without a positive family history of DRD.</div></front></TEI><istex><corpusName>elsevier</corpusName><author><json:item><name>Oliver Bandmann</name><affiliations><json:string>University Department of Clinical Neurology (Neurogenetics and Movement Disorders Section), Institute of Neurology, Queen Square, London WC1N 3BG, UK</json:string></affiliations></json:item><json:item><name>Sue Daniel</name><affiliations><json:string>Parkinson's Disease Society Brain Bank, Institute of Neurology, Queen Square, London, UK</json:string></affiliations></json:item><json:item><name>C.David Marsden</name><affiliations><json:string>University Department of Clinical Neurology (Neurogenetics and Movement Disorders Section), Institute of Neurology, Queen Square, London WC1N 3BG, UK</json:string></affiliations></json:item><json:item><name>Nicholas W. Wood</name><affiliations><json:string>Corresponding author. Tel: +44 (171) 837 3611, x4255. Fax: +44 (171) 278 5616.</json:string><json:string>University Department of Clinical Neurology (Neurogenetics and Movement Disorders Section), Institute of Neurology, Queen Square, London WC1N 3BG, UK</json:string></affiliations></json:item><json:item><name>Anita E. Harding</name><affiliations><json:string>University Department of Clinical Neurology (Neurogenetics and Movement Disorders Section), Institute of Neurology, Queen Square, London WC1N 3BG, UK</json:string><json:string>1 Deceased 11th September 95.</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Clinical section</value></json:item></subject><language><json:string>eng</json:string></language><abstract>GTP cyclohydrolase I (GTPCH) has recently been identified as the first causative gene for Dopa-responsive dystonia (DRD). DRD typically presents with dystonia in the lower limbs in childhood, but may produce an akinetic-rigid syndrome in middle and old age. We have sequenced the GTPCH gene in 29 Parkinsonian patients without a positive family history for DRD, but who shared at least one feature of the akinetic-rigid presentation of DRD: 23 patients had at least one living relative who also suffered from an akinetic-rigid syndrome; 2 patients had an abnormally mild course of their parkinsonism which was extremely dopa-responsive. DNA was also analysed from 4 brain samples of patients who were clinically diagnosed as suffering from Parkinson's disease, but then did not show any pathological findings at post mortem. No changes in the sequence of the GTPCH gene were detected. 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Tel: +44 (171) 837 3611, x4255. Fax: +44 (171) 278 5616.</affiliation><affiliation>University Department of Clinical Neurology (Neurogenetics and Movement Disorders Section), Institute of Neurology, Queen Square, London WC1N 3BG, UK</affiliation></author><author><persName><forename type="first">Anita E.</forename><surname>Harding</surname></persName><affiliation>University Department of Clinical Neurology (Neurogenetics and Movement Disorders Section), Institute of Neurology, Queen Square, London WC1N 3BG, UK</affiliation><affiliation>1 Deceased 11th September 95.</affiliation></author></analytic><monogr><title level="j">Journal of the Neurological Sciences</title><title level="j" type="abbrev">JNS</title><idno type="pISSN">0022-510X</idno><idno type="PII">S0022-510X(00)X0020-2</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1996"></date><biblScope unit="volume">141</biblScope><biblScope unit="issue">1–2</biblScope><biblScope unit="page" from="27">27</biblScope><biblScope unit="page" to="32">32</biblScope></imprint></monogr><idno type="istex">A3403516A4C49AF38D89C281B798FCCC8F8BFDB9</idno><idno type="DOI">10.1016/0022-510X(96)00098-6</idno><idno type="PII">0022-510X(96)00098-6</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>1996</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>GTP cyclohydrolase I (GTPCH) has recently been identified as the first causative gene for Dopa-responsive dystonia (DRD). DRD typically presents with dystonia in the lower limbs in childhood, but may produce an akinetic-rigid syndrome in middle and old age. We have sequenced the GTPCH gene in 29 Parkinsonian patients without a positive family history for DRD, but who shared at least one feature of the akinetic-rigid presentation of DRD: 23 patients had at least one living relative who also suffered from an akinetic-rigid syndrome; 2 patients had an abnormally mild course of their parkinsonism which was extremely dopa-responsive. DNA was also analysed from 4 brain samples of patients who were clinically diagnosed as suffering from Parkinson's disease, but then did not show any pathological findings at post mortem. No changes in the sequence of the GTPCH gene were detected. We conclude that so far there is no evidence that mutations of the GTPCH gene are responsible for the development of parkinsonism in patients without a positive family history of DRD.</p></abstract><textClass><keywords scheme="keyword"><list><head>Article category</head><item><term>Clinical section</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="1996-02-21">Registration</change><change when="1996">Published</change></revisionDesc></teiHeader></istex:fulltextTEI></fulltext><metadata><istex:metadataXml wicri:clean="Elsevier, elements deleted: tail"><istex:xmlDeclaration>version="1.0" encoding="utf-8"</istex:xmlDeclaration><istex:docType PUBLIC="-//ES//DTD journal article DTD version 4.5.2//EN//XML" URI="art452.dtd" name="istex:docType"></istex:docType><istex:document><converted-article version="4.5.2" docsubtype="fla"><item-info><jid>JNS</jid><aid>96000986</aid><ce:pii>0022-510X(96)00098-6</ce:pii><ce:doi>10.1016/0022-510X(96)00098-6</ce:doi><ce:copyright type="unknown" year="1996"></ce:copyright><ce:doctopics><ce:doctopic><ce:text>Clinical section</ce:text></ce:doctopic></ce:doctopics></item-info><head><ce:dochead><ce:textfn>Research article</ce:textfn></ce:dochead><ce:title>The GTP-cyclohydrolase I gene in atypical Parkinsonian patients: a clinico-genetic study</ce:title><ce:author-group><ce:author><ce:given-name>Oliver</ce:given-name><ce:surname>Bandmann</ce:surname><ce:cross-ref refid="AFF1"><ce:sup>a</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>Sue</ce:given-name><ce:surname>Daniel</ce:surname><ce:cross-ref refid="AFF2"><ce:sup>b</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>C.David</ce:given-name><ce:surname>Marsden</ce:surname><ce:cross-ref refid="AFF1"><ce:sup>a</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>Nicholas W.</ce:given-name><ce:surname>Wood</ce:surname><ce:cross-ref refid="COR1"><ce:sup>∗</ce:sup></ce:cross-ref><ce:cross-ref refid="AFF1"><ce:sup>a</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>Anita E.</ce:given-name><ce:surname>Harding</ce:surname><ce:cross-ref refid="AFF1"><ce:sup>a</ce:sup></ce:cross-ref><ce:cross-ref refid="FN1"><ce:sup>1</ce:sup></ce:cross-ref></ce:author><ce:affiliation id="AFF1"><ce:label>a</ce:label><ce:textfn>University Department of Clinical Neurology (Neurogenetics and Movement Disorders Section), Institute of Neurology, Queen Square, London WC1N 3BG, UK</ce:textfn></ce:affiliation><ce:affiliation id="AFF2"><ce:label>b</ce:label><ce:textfn>Parkinson's Disease Society Brain Bank, Institute of Neurology, Queen Square, London, UK</ce:textfn></ce:affiliation><ce:correspondence id="COR1"><ce:label>∗</ce:label><ce:text>Corresponding author. Tel: +44 (171) 837 3611, x4255. Fax: +44 (171) 278 5616.</ce:text></ce:correspondence><ce:footnote id="FN1"><ce:label>1</ce:label><ce:note-para>Deceased 11th September 95.</ce:note-para></ce:footnote></ce:author-group><ce:date-received day="30" month="1" year="1996"></ce:date-received><ce:date-accepted day="21" month="2" year="1996"></ce:date-accepted><ce:abstract><ce:section-title>Abstract</ce:section-title><ce:abstract-sec><ce:simple-para>GTP cyclohydrolase I (GTPCH) has recently been identified as the first causative gene for Dopa-responsive dystonia (DRD). DRD typically presents with dystonia in the lower limbs in childhood, but may produce an akinetic-rigid syndrome in middle and old age. We have sequenced the GTPCH gene in 29 Parkinsonian patients without a positive family history for DRD, but who shared at least one feature of the akinetic-rigid presentation of DRD: 23 patients had at least one living relative who also suffered from an akinetic-rigid syndrome; 2 patients had an abnormally mild course of their parkinsonism which was extremely dopa-responsive. DNA was also analysed from 4 brain samples of patients who were clinically diagnosed as suffering from Parkinson's disease, but then did not show any pathological findings at post mortem. No changes in the sequence of the GTPCH gene were detected. We conclude that so far there is no evidence that mutations of the GTPCH gene are responsible for the development of parkinsonism in patients without a positive family history of DRD.</ce:simple-para></ce:abstract-sec></ce:abstract></head></converted-article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo><title>The GTP-cyclohydrolase I gene in atypical Parkinsonian patients: a clinico-genetic study</title></titleInfo><titleInfo type="alternative" contentType="CDATA"><title>The GTP-cyclohydrolase I gene in atypical Parkinsonian patients: a clinico-genetic study</title></titleInfo><name type="personal"><namePart type="given">Oliver</namePart><namePart type="family">Bandmann</namePart><affiliation>University Department of Clinical Neurology (Neurogenetics and Movement Disorders Section), Institute of Neurology, Queen Square, London WC1N 3BG, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sue</namePart><namePart type="family">Daniel</namePart><affiliation>Parkinson's Disease Society Brain Bank, Institute of Neurology, Queen Square, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">C.David</namePart><namePart type="family">Marsden</namePart><affiliation>University Department of Clinical Neurology (Neurogenetics and Movement Disorders Section), Institute of Neurology, Queen Square, London WC1N 3BG, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nicholas W.</namePart><namePart type="family">Wood</namePart><affiliation>Corresponding author. Tel: +44 (171) 837 3611, x4255. Fax: +44 (171) 278 5616.</affiliation><affiliation>University Department of Clinical Neurology (Neurogenetics and Movement Disorders Section), Institute of Neurology, Queen Square, London WC1N 3BG, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Anita E.</namePart><namePart type="family">Harding</namePart><affiliation>University Department of Clinical Neurology (Neurogenetics and Movement Disorders Section), Institute of Neurology, Queen Square, London WC1N 3BG, UK</affiliation><affiliation>1 Deceased 11th September 95.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="Full-length article"></genre><originInfo><publisher>ELSEVIER</publisher><dateIssued encoding="w3cdtf">1996</dateIssued><dateValid encoding="w3cdtf">1996-02-21</dateValid><copyrightDate encoding="w3cdtf">1996</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract lang="en">GTP cyclohydrolase I (GTPCH) has recently been identified as the first causative gene for Dopa-responsive dystonia (DRD). DRD typically presents with dystonia in the lower limbs in childhood, but may produce an akinetic-rigid syndrome in middle and old age. We have sequenced the GTPCH gene in 29 Parkinsonian patients without a positive family history for DRD, but who shared at least one feature of the akinetic-rigid presentation of DRD: 23 patients had at least one living relative who also suffered from an akinetic-rigid syndrome; 2 patients had an abnormally mild course of their parkinsonism which was extremely dopa-responsive. DNA was also analysed from 4 brain samples of patients who were clinically diagnosed as suffering from Parkinson's disease, but then did not show any pathological findings at post mortem. No changes in the sequence of the GTPCH gene were detected. We conclude that so far there is no evidence that mutations of the GTPCH gene are responsible for the development of parkinsonism in patients without a positive family history of DRD.</abstract><note type="content">Section title: Research article</note><subject><genre>Article category</genre><topic>Clinical section</topic></subject><relatedItem type="host"><titleInfo><title>Journal of the Neurological Sciences</title></titleInfo><titleInfo type="abbreviated"><title>JNS</title></titleInfo><genre type="Journal">journal</genre><originInfo><dateIssued encoding="w3cdtf">19960915</dateIssued></originInfo><identifier type="ISSN">0022-510X</identifier><identifier type="PII">S0022-510X(00)X0020-2</identifier><part><date>19960915</date><detail type="volume"><number>141</number><caption>vol.</caption></detail><detail type="issue"><number>1–2</number><caption>no.</caption></detail><extent unit="issue pages"><start>1</start><end>147</end></extent><extent unit="pages"><start>27</start><end>32</end></extent></part></relatedItem><identifier type="istex">A3403516A4C49AF38D89C281B798FCCC8F8BFDB9</identifier><identifier type="DOI">10.1016/0022-510X(96)00098-6</identifier><identifier type="PII">0022-510X(96)00098-6</identifier><recordInfo><recordContentSource>ELSEVIER</recordContentSource></recordInfo></mods></metadata><enrichments><istex:catWosTEI uri="https://api.istex.fr/document/A3403516A4C49AF38D89C281B798FCCC8F8BFDB9/enrichments/catWos"><teiHeader><profileDesc><textClass><classCode scheme="WOS">CLINICAL NEUROLOGY</classCode><classCode scheme="WOS">NEUROIMAGING</classCode><classCode scheme="WOS">NEUROSCIENCES</classCode></textClass></profileDesc></teiHeader></istex:catWosTEI></enrichments><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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