Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections
Identifieur interne : 005284 ( Main/Merge ); précédent : 005283; suivant : 005285Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections
Auteurs : Katharina Diepold [Allemagne] ; Barbara Schütz [Allemagne] ; Kevin Rostasy [Allemagne] ; Bernd Wilken [Allemagne] ; Pia Hougaard [Danemark] ; Flemming Güttler [Danemark] ; Anne Romstad [Danemark] ; Lisbeth Birk M Ller [Danemark]Source :
- Movement disorders [ 0885-3185 ] ; 2005.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Enfant.
English descriptors
- KwdEn :
Abstract
Autosomal recessive forms of infantile dystonia due to mutations in the tyrosine hydroxylase (TH) gene have been described recently. The main clinical manifestations are Segawa's disease, or infantile hypokinetic rigid Parkinsonism. Here, we report on a patient with hyperrigidity, psychomotor developmental delay, and dystonic posturing of the hands, symptoms that appeared after a viral infection at the age of 14 months. Low homovanillic acid/5-hydroxyindolacetic acid (HVA/ 5HIAA) ratio in cerebrospinal fluid suggested a TH deficiency. Molecular analysis revealed a novel (H246Y) and a known (D498G) compound heterozygote mutation in the TH gene. The patient showed a remarkable response to treatment with levodopa. The new mutation and the association of viral infections with the onset and worsening of symptoms are discussed.
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Pascal:05-0363489Le document en format XML
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections</title>
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<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
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<imprint><date when="2005">2005</date>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Child</term>
<term>Dystonia</term>
<term>Levodopa</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Parkinsonism</term>
<term>Tyrosine 3-monooxygenase</term>
<term>Viral disease</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Parkinsonisme</term>
<term>Virose</term>
<term>Dystonie</term>
<term>Lévodopa</term>
<term>Enfant</term>
<term>Mutation</term>
<term>Tyrosine 3-monooxygenase</term>
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<front><div type="abstract" xml:lang="en">Autosomal recessive forms of infantile dystonia due to mutations in the tyrosine hydroxylase (TH) gene have been described recently. The main clinical manifestations are Segawa's disease, or infantile hypokinetic rigid Parkinsonism. Here, we report on a patient with hyperrigidity, psychomotor developmental delay, and dystonic posturing of the hands, symptoms that appeared after a viral infection at the age of 14 months. Low homovanillic acid/5-hydroxyindolacetic acid (HVA/ 5HIAA) ratio in cerebrospinal fluid suggested a TH deficiency. Molecular analysis revealed a novel (H246Y) and a known (D498G) compound heterozygote mutation in the TH gene. The patient showed a remarkable response to treatment with levodopa. The new mutation and the association of viral infections with the onset and worsening of symptoms are discussed.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Danemark</li>
</country>
<region><li>Basse-Saxe</li>
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<name sortKey="Rostasy, Kevin" sort="Rostasy, Kevin" uniqKey="Rostasy K" first="Kevin" last="Rostasy">Kevin Rostasy</name>
<name sortKey="Schutz, Barbara" sort="Schutz, Barbara" uniqKey="Schutz B" first="Barbara" last="Schütz">Barbara Schütz</name>
<name sortKey="Wilken, Bernd" sort="Wilken, Bernd" uniqKey="Wilken B" first="Bernd" last="Wilken">Bernd Wilken</name>
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<country name="Danemark"><noRegion><name sortKey="Hougaard, Pia" sort="Hougaard, Pia" uniqKey="Hougaard P" first="Pia" last="Hougaard">Pia Hougaard</name>
</noRegion>
<name sortKey="Guttler, Flemming" sort="Guttler, Flemming" uniqKey="Guttler F" first="Flemming" last="Güttler">Flemming Güttler</name>
<name sortKey="M Ller, Lisbeth Birk" sort="M Ller, Lisbeth Birk" uniqKey="M Ller L" first="Lisbeth Birk" last="M Ller">Lisbeth Birk M Ller</name>
<name sortKey="Romstad, Anne" sort="Romstad, Anne" uniqKey="Romstad A" first="Anne" last="Romstad">Anne Romstad</name>
</country>
</tree>
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</record>
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