The GTP-cyclohydrolase I gene in atypical Parkinsonian patients: a clinico-genetic study
Identifieur interne : 002073 ( Main/Exploration ); précédent : 002072; suivant : 002074The GTP-cyclohydrolase I gene in atypical Parkinsonian patients: a clinico-genetic study
Auteurs : Oliver Bandmann [Royaume-Uni] ; Sue Daniel [Royaume-Uni] ; C. David Marsden [Royaume-Uni] ; Nicholas W. Wood [Royaume-Uni] ; Anita E. Harding [Royaume-Uni]Source :
- 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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Harding</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University Department of Clinical Neurology (Neurogenetics and Movement Disorders Section), Institute of Neurology, Queen Square, London WC1N 3BG</wicri:regionArea><wicri:noRegion>London WC1N 3BG</wicri:noRegion></affiliation><affiliation><wicri:noCountry code="no comma">1 Deceased 11th September 95.</wicri:noCountry></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><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><country name="Royaume-Uni"><noRegion><name sortKey="Bandmann, Oliver" sort="Bandmann, Oliver" uniqKey="Bandmann O" first="Oliver" last="Bandmann">Oliver Bandmann</name></noRegion><name sortKey="Daniel, Sue" sort="Daniel, Sue" uniqKey="Daniel S" first="Sue" last="Daniel">Sue Daniel</name><name sortKey="Harding, Anita E" sort="Harding, Anita E" uniqKey="Harding A" first="Anita E." last="Harding">Anita E. Harding</name><name sortKey="Marsden, C David" sort="Marsden, C David" uniqKey="Marsden C" first="C. David" last="Marsden">C. David Marsden</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)
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