MovDisordV3, PascalFrancis, Corpus, bibRecord, 001E49

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

Identifieur interne : 001E49 ( PascalFrancis/Corpus ); précédent : 001E48; suivant : 001E50

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

Auteurs : Katharina Diepold ; Barbara Schütz ; Kevin Rostasy ; Bernd Wilken ; Pia Hougaard ; Flemming Güttler ; Anne Romstad ; Lisbeth Birk M Ller

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.

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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C03	`08`	`X`	`FRE`	`@0 Tyrosine 3-monooxygenase @2 FE @5 12 @6 Tyrosine «3»-monooxygenase`
C03	`08`	`X`	`ENG`	`@0 Tyrosine 3-monooxygenase @2 FE @5 12 @6 Tyrosine «3»-monooxygenase`
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C07	`06`	`X`	`FRE`	`@0 Mouvement involontaire @5 38`
C07	`06`	`X`	`ENG`	`@0 Involuntary movement @5 38`
C07	`06`	`X`	`SPA`	`@0 Movimiento involuntario @5 38`
C07	`07`	`X`	`FRE`	`@0 Muscle strié pathologie @5 39`
C07	`07`	`X`	`ENG`	`@0 Striated muscle disease @5 39`
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Format Inist (serveur)

NO :	PASCAL 05-0363489 INIST
ET :	Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections
AU :	DIEPOLD (Katharina); SCHÜTZ (Barbara); ROSTASY (Kevin); WILKEN (Bernd); HOUGAARD (Pia); GÜTTLER (Flemming); ROMSTAD (Anne); MØLLER (Lisbeth Birk)
AF :	Department of Pediatrics, Division of Neuropediatrics, University of Göttingen/Göttingen/Allemagne (1 aut., 3 aut.); Department of Pediatrics, Division of Neuropediatrics, Division Neurology, Charité Virchow-Klinikum/Berlin/Allemagne (2 aut.); Department of Neuropediatrics, Klinikum Kassel/Kassel/Allemagne (4 aut.); The John F. Kennedy Institute/Glostrup/Danemark (5 aut., 6 aut., 7 aut., 8 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2005; Vol. 20; No. 6; Pp. 764-767; Bibl. 16 ref.
LA :	Anglais
EA :	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.
CC :	002B17; 002B17G; 002B05C02D
FD :	Système nerveux pathologie; Parkinsonisme; Virose; Dystonie; Lévodopa; Enfant; Mutation; Tyrosine 3-monooxygenase
FG :	Infection; Homme; Oxidoreductases; Enzyme; Extrapyramidal syndrome; Mouvement involontaire; Muscle strié pathologie; Trouble neurologique; Encéphale pathologie; Système nerveux central pathologie
ED :	Nervous system diseases; Parkinsonism; Viral disease; Dystonia; Levodopa; Child; Mutation; Tyrosine 3-monooxygenase
EG :	Infection; Human; Oxidoreductases; Enzyme; Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Cerebral disorder; Central nervous system disease
SD :	Sistema nervioso patología; Parkinson síndrome; Virosis; Distonía; Levodopa; Niño; Mutación; Tyrosine 3-monooxygenase
LO :	INIST-20953.354000138604660200
ID :	05-0363489

Links to Exploration step

Pascal:05-0363489

Le document en format XML

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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>
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<sZ>3 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Department of Pediatrics, Division of Neuropediatrics, Division Neurology, Charité Virchow-Klinikum</s1>
<s2>Berlin</s2>
<s3>DEU</s3>
<sZ>2 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Department of Neuropediatrics, Klinikum Kassel</s1>
<s2>Kassel</s2>
<s3>DEU</s3>
<sZ>4 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>The John F. Kennedy Institute</s1>
<s2>Glostrup</s2>
<s3>DNK</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</fA14>
<fA20><s1>764-767</s1>
</fA20>
<fA21><s1>2005</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000138604660200</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2005 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>16 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>05-0363489</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17G</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002B05C02D</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Parkinsonisme</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Parkinsonism</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Parkinson síndrome</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Virose</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Viral disease</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Virosis</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Dystonie</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Dystonia</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Distonía</s0>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Lévodopa</s0>
<s2>NK</s2>
<s2>FR</s2>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Levodopa</s0>
<s2>NK</s2>
<s2>FR</s2>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Levodopa</s0>
<s2>NK</s2>
<s2>FR</s2>
<s5>09</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Enfant</s0>
<s5>10</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Child</s0>
<s5>10</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Niño</s0>
<s5>10</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Mutation</s0>
<s5>11</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Mutation</s0>
<s5>11</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Mutación</s0>
<s5>11</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Tyrosine 3-monooxygenase</s0>
<s2>FE</s2>
<s5>12</s5>
<s6>Tyrosine «3»-monooxygenase</s6>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Tyrosine 3-monooxygenase</s0>
<s2>FE</s2>
<s5>12</s5>
<s6>Tyrosine «3»-monooxygenase</s6>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Tyrosine 3-monooxygenase</s0>
<s2>FE</s2>
<s5>12</s5>
<s6>Tyrosine «3»-monooxygenase</s6>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Infection</s0>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Infection</s0>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Infección</s0>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Homme</s0>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Human</s0>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Hombre</s0>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Oxidoreductases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Oxidoreductases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Oxidoreductases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Enzyme</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Enzyme</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Enzima</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>38</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>38</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>38</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Muscle strié pathologie</s0>
<s5>39</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Striated muscle disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Músculo estriado patología</s0>
<s5>39</s5>
</fC07>
<fC07 i1="08" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>40</s5>
</fC07>
<fC07 i1="08" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>40</s5>
</fC07>
<fC07 i1="08" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>40</s5>
</fC07>
<fC07 i1="09" i2="X" l="FRE"><s0>Encéphale pathologie</s0>
<s5>41</s5>
</fC07>
<fC07 i1="09" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>41</s5>
</fC07>
<fC07 i1="09" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>41</s5>
</fC07>
<fC07 i1="10" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>42</s5>
</fC07>
<fC07 i1="10" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>42</s5>
</fC07>
<fC07 i1="10" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>42</s5>
</fC07>
<fN21><s1>255</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 05-0363489 INIST</NO>
<ET>Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections</ET>
<AU>DIEPOLD (Katharina); SCHÜTZ (Barbara); ROSTASY (Kevin); WILKEN (Bernd); HOUGAARD (Pia); GÜTTLER (Flemming); ROMSTAD (Anne); MØLLER (Lisbeth Birk)</AU>
<AF>Department of Pediatrics, Division of Neuropediatrics, University of Göttingen/Göttingen/Allemagne (1 aut., 3 aut.); Department of Pediatrics, Division of Neuropediatrics, Division Neurology, Charité Virchow-Klinikum/Berlin/Allemagne (2 aut.); Department of Neuropediatrics, Klinikum Kassel/Kassel/Allemagne (4 aut.); The John F. Kennedy Institute/Glostrup/Danemark (5 aut., 6 aut., 7 aut., 8 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2005; Vol. 20; No. 6; Pp. 764-767; Bibl. 16 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17; 002B17G; 002B05C02D</CC>
<FD>Système nerveux pathologie; Parkinsonisme; Virose; Dystonie; Lévodopa; Enfant; Mutation; Tyrosine 3-monooxygenase</FD>
<FG>Infection; Homme; Oxidoreductases; Enzyme; Extrapyramidal syndrome; Mouvement involontaire; Muscle strié pathologie; Trouble neurologique; Encéphale pathologie; Système nerveux central pathologie</FG>
<ED>Nervous system diseases; Parkinsonism; Viral disease; Dystonia; Levodopa; Child; Mutation; Tyrosine 3-monooxygenase</ED>
<EG>Infection; Human; Oxidoreductases; Enzyme; Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Cerebral disorder; Central nervous system disease</EG>
<SD>Sistema nervioso patología; Parkinson síndrome; Virosis; Distonía; Levodopa; Niño; Mutación; Tyrosine 3-monooxygenase</SD>
<LO>INIST-20953.354000138604660200</LO>
<ID>05-0363489</ID>
</server>
</inist>
</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

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