MovDisordV3, Main, Merge, bibRecord, 005284

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 : 005285

Levodopa-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.

RBID : Pascal:05-0363489

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Parkinsonisme, Virose, Dystonie, Lévodopa, Enfant, Mutation, Tyrosine 3-monooxygenase.
Wicri :
- topic : Enfant.

English descriptors

KwdEn :
- Child, Dystonia, Levodopa, Mutation, Nervous system diseases, Parkinsonism, Tyrosine 3-monooxygenase, Viral disease.

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.

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: 001E49
to stream PascalFrancis, to step Curation: 000E72
to stream PascalFrancis, to step Checkpoint: 001E06

Links to Exploration step

Pascal:05-0363489

Le document en format XML

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<author><name sortKey="Wilken, Bernd" sort="Wilken, Bernd" uniqKey="Wilken B" first="Bernd" last="Wilken">Bernd Wilken</name>
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<author><name sortKey="Romstad, Anne" sort="Romstad, Anne" uniqKey="Romstad A" first="Anne" last="Romstad">Anne Romstad</name>
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<author><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>
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<date when="2005">2005</date>
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<idno type="wicri:Area/Main/Merge">005284</idno>
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<author><name sortKey="Diepold, Katharina" sort="Diepold, Katharina" uniqKey="Diepold K" first="Katharina" last="Diepold">Katharina Diepold</name>
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<s2>Göttingen</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
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<author><name sortKey="Schutz, Barbara" sort="Schutz, Barbara" uniqKey="Schutz B" first="Barbara" last="Schütz">Barbara Schütz</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Pediatrics, Division of Neuropediatrics, Division Neurology, Charité Virchow-Klinikum</s1>
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<sZ>2 aut.</sZ>
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<country>Allemagne</country>
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<author><name sortKey="Rostasy, Kevin" sort="Rostasy, Kevin" uniqKey="Rostasy K" first="Kevin" last="Rostasy">Kevin Rostasy</name>
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<author><name sortKey="Wilken, Bernd" sort="Wilken, Bernd" uniqKey="Wilken B" first="Bernd" last="Wilken">Bernd Wilken</name>
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<author><name sortKey="Hougaard, Pia" sort="Hougaard, Pia" uniqKey="Hougaard P" first="Pia" last="Hougaard">Pia Hougaard</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>The John F. Kennedy Institute</s1>
<s2>Glostrup</s2>
<s3>DNK</s3>
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<country>Danemark</country>
<wicri:noRegion>The John F. Kennedy Institute</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Guttler, Flemming" sort="Guttler, Flemming" uniqKey="Guttler F" first="Flemming" last="Güttler">Flemming Güttler</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>The John F. Kennedy Institute</s1>
<s2>Glostrup</s2>
<s3>DNK</s3>
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<country>Danemark</country>
<wicri:noRegion>The John F. Kennedy Institute</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Romstad, Anne" sort="Romstad, Anne" uniqKey="Romstad A" first="Anne" last="Romstad">Anne Romstad</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>The John F. Kennedy Institute</s1>
<s2>Glostrup</s2>
<s3>DNK</s3>
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<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Danemark</country>
<wicri:noRegion>The John F. Kennedy Institute</wicri:noRegion>
</affiliation>
</author>
<author><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>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>The John F. Kennedy Institute</s1>
<s2>Glostrup</s2>
<s3>DNK</s3>
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<country>Danemark</country>
<wicri:noRegion>The John F. Kennedy Institute</wicri:noRegion>
</affiliation>
</author>
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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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<li>District de Kassel</li>
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<settlement><li>Berlin</li>
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<tree><country name="Allemagne"><region name="Basse-Saxe"><name sortKey="Diepold, Katharina" sort="Diepold, Katharina" uniqKey="Diepold K" first="Katharina" last="Diepold">Katharina Diepold</name>
</region>
<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>
</country>
<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>
</affiliations>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections

Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri