6‐Pyruvoyl‐tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: A clinical and molecular study
Identifieur interne : 008460 ( Main/Merge ); précédent : 008459; suivant : 0084616‐Pyruvoyl‐tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: A clinical and molecular study
Auteurs : Hanihara [Japon] ; K. Inoue [Japon] ; C. Kawanishi [Japon] ; N. Sugiyama [Japon] ; T. Miyakawa [Japon] ; H. Onishi [Japon] ; Y. Yamada [Japon] ; H. Osaka [Japon] ; K. Kosaka [Japon] ; K. Iwabuchi [Japon] ; M. Owada [Japon]Source :
- Movement Disorders [ 0885-3185 ] ; 1997-05.
English descriptors
- KwdEn :
- 6‐Pyruvoyl tetrahydropterin synthase deficiency, Adult, Alcohol Oxidoreductases (deficiency), Antiparkinson Agents (administration & dosage), Antiparkinson Agents (therapeutic use), Base Sequence, Benserazide (administration & dosage), Benserazide (therapeutic use), Circadian Rhythm, Diurnal fluctuation, Dopa‐responsive dystonia, Drug Therapy, Combination, Dystonia (drug therapy), Dystonia (enzymology), Dystonia (genetics), Female, Hereditary progressive dystonia, Homozygote, Humans, Levodopa (administration & dosage), Levodopa (therapeutic use), Molecular Sequence Data, Orofacial dyskinesia, Phosphorus-Oxygen Lyases, Point Mutation, Polymerase Chain Reaction, Pterins (urine), Tetrahydrobiopterin.
- MESH :
- chemical , administration & dosage : Antiparkinson Agents, Benserazide, Levodopa.
- chemical , deficiency : Alcohol Oxidoreductases.
- chemical , therapeutic use : Antiparkinson Agents, Benserazide, Levodopa.
- drug therapy : Dystonia.
- enzymology : Dystonia.
- genetics : Dystonia.
- chemical , urine : Pterins.
- Adult, Base Sequence, Circadian Rhythm, Drug Therapy, Combination, Female, Homozygote, Humans, Molecular Sequence Data, Phosphorus-Oxygen Lyases, Point Mutation, Polymerase Chain Reaction.
Abstract
We report the case of a 44‐year‐old woman with a partial 6‐pyruvoyl tetrahydropterin synthase (6‐PTS) deficiency, whose predominant clinical symptom was generalized dystonia with marked diurnal fluctuation. Dystonia was present in the eyelids, oromandibular region, trunk, and extremities (Meige syndrome plus double hemiplegia‐like dystonia). A marked and sustained positive response to levodopa was observed. A molecular genetic study revealed a homozygous mutation (I114V) in the 6‐PTS gene. This study indicates that genetic abnormality in the 6‐PTS gene may be a hereditary dystonic disorder. We speculate that our patient has residual 6‐PTS activity in the central nervous system, such as in the liver, and we suggest that residual, but insufficient production of tretrahydrobiopterin may play an important role in causing diurnal fluctuation of symptoms.
Url:
DOI: 10.1002/mds.870120321
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Inoue</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Departments of Psychiatry, Yokohama City University of Medicine, Yokohama, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Kawanishi, C" sort="Kawanishi, C" uniqKey="Kawanishi C" first="C." last="Kawanishi">C. Kawanishi</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Departments of Psychiatry, Yokohama City University of Medicine, Yokohama, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Sugiyama, N" sort="Sugiyama, N" uniqKey="Sugiyama N" first="N." last="Sugiyama">N. Sugiyama</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Departments of Psychiatry, Yokohama City University of Medicine, Yokohama, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Miyakawa, T" sort="Miyakawa, T" uniqKey="Miyakawa T" first="T." last="Miyakawa">T. Miyakawa</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Departments of Psychiatry, Yokohama City University of Medicine, Yokohama, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Onishi, H" sort="Onishi, H" uniqKey="Onishi H" first="H." last="Onishi">H. Onishi</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Departments of Psychiatry, Yokohama City University of Medicine, Yokohama, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Yamada, Y" sort="Yamada, Y" uniqKey="Yamada Y" first="Y." last="Yamada">Y. Yamada</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Departments of Psychiatry, Yokohama City University of Medicine, Yokohama, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Osaka, H" sort="Osaka, H" uniqKey="Osaka H" first="H." last="Osaka">H. 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Iwabuchi</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Psychiatry, Kanagawa Rehabilitation Center, Atsugi, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Owada, M" sort="Owada, M" uniqKey="Owada M" first="M." last="Owada">M. Owada</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Nihon University, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="1997-05">1997-05</date><biblScope unit="vol">12</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="408">408</biblScope><biblScope unit="page" to="411">411</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">027F5CCA5753A0E7D645FEE9FD522D799A06B3DB</idno><idno type="DOI">10.1002/mds.870120321</idno><idno type="ArticleID">MDS870120321</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>6‐Pyruvoyl tetrahydropterin synthase deficiency</term><term>Adult</term><term>Alcohol Oxidoreductases (deficiency)</term><term>Antiparkinson Agents (administration & dosage)</term><term>Antiparkinson Agents (therapeutic use)</term><term>Base Sequence</term><term>Benserazide (administration & dosage)</term><term>Benserazide (therapeutic use)</term><term>Circadian Rhythm</term><term>Diurnal fluctuation</term><term>Dopa‐responsive dystonia</term><term>Drug Therapy, Combination</term><term>Dystonia (drug therapy)</term><term>Dystonia (enzymology)</term><term>Dystonia (genetics)</term><term>Female</term><term>Hereditary progressive dystonia</term><term>Homozygote</term><term>Humans</term><term>Levodopa (administration & dosage)</term><term>Levodopa (therapeutic use)</term><term>Molecular Sequence Data</term><term>Orofacial dyskinesia</term><term>Phosphorus-Oxygen Lyases</term><term>Point Mutation</term><term>Polymerase Chain Reaction</term><term>Pterins (urine)</term><term>Tetrahydrobiopterin</term></keywords><keywords scheme="MESH" type="chemical" qualifier="administration & dosage" xml:lang="en"><term>Antiparkinson Agents</term><term>Benserazide</term><term>Levodopa</term></keywords><keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>Alcohol Oxidoreductases</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Antiparkinson Agents</term><term>Benserazide</term><term>Levodopa</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Dystonia</term></keywords><keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Dystonia</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term></keywords><keywords scheme="MESH" type="chemical" qualifier="urine" xml:lang="en"><term>Pterins</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Base Sequence</term><term>Circadian Rhythm</term><term>Drug Therapy, Combination</term><term>Female</term><term>Homozygote</term><term>Humans</term><term>Molecular Sequence Data</term><term>Phosphorus-Oxygen Lyases</term><term>Point Mutation</term><term>Polymerase Chain Reaction</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report the case of a 44‐year‐old woman with a partial 6‐pyruvoyl tetrahydropterin synthase (6‐PTS) deficiency, whose predominant clinical symptom was generalized dystonia with marked diurnal fluctuation. Dystonia was present in the eyelids, oromandibular region, trunk, and extremities (Meige syndrome plus double hemiplegia‐like dystonia). A marked and sustained positive response to levodopa was observed. A molecular genetic study revealed a homozygous mutation (I114V) in the 6‐PTS gene. This study indicates that genetic abnormality in the 6‐PTS gene may be a hereditary dystonic disorder. We speculate that our patient has residual 6‐PTS activity in the central nervous system, such as in the liver, and we suggest that residual, but insufficient production of tretrahydrobiopterin may play an important role in causing diurnal fluctuation of symptoms.</div></front></TEI><double doi="10.1002/mds.870120321"><ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">6‐Pyruvoyl‐tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: A clinical and molecular study</title><author><name sortKey="Hanihara" sort="Hanihara" uniqKey="Hanihara" last="Hanihara">Hanihara</name></author><author><name sortKey="Inoue, K" sort="Inoue, K" uniqKey="Inoue K" first="K." last="Inoue">K. Inoue</name></author><author><name sortKey="Kawanishi, C" sort="Kawanishi, C" uniqKey="Kawanishi C" first="C." last="Kawanishi">C. Kawanishi</name></author><author><name sortKey="Sugiyama, N" sort="Sugiyama, N" uniqKey="Sugiyama N" first="N." last="Sugiyama">N. Sugiyama</name></author><author><name sortKey="Miyakawa, T" sort="Miyakawa, T" uniqKey="Miyakawa T" first="T." last="Miyakawa">T. Miyakawa</name></author><author><name sortKey="Onishi, H" sort="Onishi, H" uniqKey="Onishi H" first="H." last="Onishi">H. Onishi</name></author><author><name sortKey="Yamada, Y" sort="Yamada, Y" uniqKey="Yamada Y" first="Y." last="Yamada">Y. Yamada</name></author><author><name sortKey="Osaka, H" sort="Osaka, H" uniqKey="Osaka H" first="H." last="Osaka">H. Osaka</name></author><author><name sortKey="Kosaka, K" sort="Kosaka, K" uniqKey="Kosaka K" first="K." last="Kosaka">K. Kosaka</name></author><author><name sortKey="Iwabuchi, K" sort="Iwabuchi, K" uniqKey="Iwabuchi K" first="K." last="Iwabuchi">K. Iwabuchi</name></author><author><name sortKey="Owada, M" sort="Owada, M" uniqKey="Owada M" first="M." last="Owada">M. Owada</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:027F5CCA5753A0E7D645FEE9FD522D799A06B3DB</idno><date when="1997" year="1997">1997</date><idno type="doi">10.1002/mds.870120321</idno><idno type="url">https://api.istex.fr/document/027F5CCA5753A0E7D645FEE9FD522D799A06B3DB/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">003161</idno><idno type="wicri:Area/Istex/Curation">003161</idno><idno type="wicri:Area/Istex/Checkpoint">003A55</idno><idno type="wicri:doubleKey">0885-3185:1997:Hanihara:pyruvoyl:tetrahydropterin:synthase</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">6‐Pyruvoyl‐tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: A clinical and molecular study</title><author><name sortKey="Hanihara" sort="Hanihara" uniqKey="Hanihara" last="Hanihara">Hanihara</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Departments of Psychiatry, Yokohama City University of Medicine, Yokohama, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Inoue, K" sort="Inoue, K" uniqKey="Inoue K" first="K." last="Inoue">K. Inoue</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Departments of Psychiatry, Yokohama City University of Medicine, Yokohama, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Kawanishi, C" sort="Kawanishi, C" uniqKey="Kawanishi C" first="C." last="Kawanishi">C. Kawanishi</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Departments of Psychiatry, Yokohama City University of Medicine, Yokohama, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Sugiyama, N" sort="Sugiyama, N" uniqKey="Sugiyama N" first="N." last="Sugiyama">N. Sugiyama</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Departments of Psychiatry, Yokohama City University of Medicine, Yokohama, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Miyakawa, T" sort="Miyakawa, T" uniqKey="Miyakawa T" first="T." last="Miyakawa">T. Miyakawa</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Departments of Psychiatry, Yokohama City University of Medicine, Yokohama, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Onishi, H" sort="Onishi, H" uniqKey="Onishi H" first="H." last="Onishi">H. Onishi</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Departments of Psychiatry, Yokohama City University of Medicine, Yokohama, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Yamada, Y" sort="Yamada, Y" uniqKey="Yamada Y" first="Y." last="Yamada">Y. Yamada</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Departments of Psychiatry, Yokohama City University of Medicine, Yokohama, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Osaka, H" sort="Osaka, H" uniqKey="Osaka H" first="H." last="Osaka">H. Osaka</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Departments of Pediatrics, Yokohama City University of Medicine, Yokohama, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Kosaka, K" sort="Kosaka, K" uniqKey="Kosaka K" first="K." last="Kosaka">K. Kosaka</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Departments of Psychiatry, Yokohama City University of Medicine, Yokohama, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Iwabuchi, K" sort="Iwabuchi, K" uniqKey="Iwabuchi K" first="K." last="Iwabuchi">K. Iwabuchi</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Psychiatry, Kanagawa Rehabilitation Center, Atsugi, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Owada, M" sort="Owada, M" uniqKey="Owada M" first="M." last="Owada">M. Owada</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Nihon University, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="1997-05">1997-05</date><biblScope unit="vol">12</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="408">408</biblScope><biblScope unit="page" to="411">411</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">027F5CCA5753A0E7D645FEE9FD522D799A06B3DB</idno><idno type="DOI">10.1002/mds.870120321</idno><idno type="ArticleID">MDS870120321</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>6‐Pyruvoyl tetrahydropterin synthase deficiency</term><term>Diurnal fluctuation</term><term>Dopa‐responsive dystonia</term><term>Hereditary progressive dystonia</term><term>Orofacial dyskinesia</term><term>Tetrahydrobiopterin</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report the case of a 44‐year‐old woman with a partial 6‐pyruvoyl tetrahydropterin synthase (6‐PTS) deficiency, whose predominant clinical symptom was generalized dystonia with marked diurnal fluctuation. Dystonia was present in the eyelids, oromandibular region, trunk, and extremities (Meige syndrome plus double hemiplegia‐like dystonia). A marked and sustained positive response to levodopa was observed. A molecular genetic study revealed a homozygous mutation (I114V) in the 6‐PTS gene. This study indicates that genetic abnormality in the 6‐PTS gene may be a hereditary dystonic disorder. We speculate that our patient has residual 6‐PTS activity in the central nervous system, such as in the liver, and we suggest that residual, but insufficient production of tretrahydrobiopterin may play an important role in causing diurnal fluctuation of symptoms.</div></front></TEI></ISTEX><PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study.</title><author><name sortKey="Hanihara, T" sort="Hanihara, T" uniqKey="Hanihara T" first="T" last="Hanihara">T. Hanihara</name><affiliation wicri:level="1"><nlm:affiliation>Department of Psychiatry, Yokohama City University of Medicine, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Psychiatry, Yokohama City University of Medicine</wicri:regionArea><wicri:noRegion>Yokohama City University of Medicine</wicri:noRegion></affiliation></author><author><name sortKey="Inoue, K" sort="Inoue, K" uniqKey="Inoue K" first="K" last="Inoue">K. Inoue</name></author><author><name sortKey="Kawanishi, C" sort="Kawanishi, C" uniqKey="Kawanishi C" first="C" last="Kawanishi">C. Kawanishi</name></author><author><name sortKey="Sugiyama, N" sort="Sugiyama, N" uniqKey="Sugiyama N" first="N" last="Sugiyama">N. Sugiyama</name></author><author><name sortKey="Miyakawa, T" sort="Miyakawa, T" uniqKey="Miyakawa T" first="T" last="Miyakawa">T. Miyakawa</name></author><author><name sortKey="Onishi, H" sort="Onishi, H" uniqKey="Onishi H" first="H" last="Onishi">H. Onishi</name></author><author><name sortKey="Yamada, Y" sort="Yamada, Y" uniqKey="Yamada Y" first="Y" last="Yamada">Y. Yamada</name></author><author><name sortKey="Osaka, H" sort="Osaka, H" uniqKey="Osaka H" first="H" last="Osaka">H. Osaka</name></author><author><name sortKey="Kosaka, K" sort="Kosaka, K" uniqKey="Kosaka K" first="K" last="Kosaka">K. Kosaka</name></author><author><name sortKey="Iwabuchi, K" sort="Iwabuchi, K" uniqKey="Iwabuchi K" first="K" last="Iwabuchi">K. Iwabuchi</name></author><author><name sortKey="Owada, M" sort="Owada, M" uniqKey="Owada M" first="M" last="Owada">M. Owada</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="1997">1997</date><idno type="RBID">pubmed:9159737</idno><idno type="pmid">9159737</idno><idno type="doi">10.1002/mds.870120321</idno><idno type="wicri:Area/PubMed/Corpus">004669</idno><idno type="wicri:Area/PubMed/Curation">004669</idno><idno type="wicri:Area/PubMed/Checkpoint">004738</idno><idno type="wicri:Area/Ncbi/Merge">004D13</idno><idno type="wicri:Area/Ncbi/Curation">004D13</idno><idno type="wicri:Area/Ncbi/Checkpoint">004D13</idno><idno type="wicri:doubleKey">0885-3185:1997:Hanihara T:pyruvoyl:tetrahydropterin:synthase</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study.</title><author><name sortKey="Hanihara, T" sort="Hanihara, T" uniqKey="Hanihara T" first="T" last="Hanihara">T. Hanihara</name><affiliation wicri:level="1"><nlm:affiliation>Department of Psychiatry, Yokohama City University of Medicine, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Psychiatry, Yokohama City University of Medicine</wicri:regionArea><wicri:noRegion>Yokohama City University of Medicine</wicri:noRegion></affiliation></author><author><name sortKey="Inoue, K" sort="Inoue, K" uniqKey="Inoue K" first="K" last="Inoue">K. Inoue</name></author><author><name sortKey="Kawanishi, C" sort="Kawanishi, C" uniqKey="Kawanishi C" first="C" last="Kawanishi">C. Kawanishi</name></author><author><name sortKey="Sugiyama, N" sort="Sugiyama, N" uniqKey="Sugiyama N" first="N" last="Sugiyama">N. Sugiyama</name></author><author><name sortKey="Miyakawa, T" sort="Miyakawa, T" uniqKey="Miyakawa T" first="T" last="Miyakawa">T. Miyakawa</name></author><author><name sortKey="Onishi, H" sort="Onishi, H" uniqKey="Onishi H" first="H" last="Onishi">H. Onishi</name></author><author><name sortKey="Yamada, Y" sort="Yamada, Y" uniqKey="Yamada Y" first="Y" last="Yamada">Y. Yamada</name></author><author><name sortKey="Osaka, H" sort="Osaka, H" uniqKey="Osaka H" first="H" last="Osaka">H. Osaka</name></author><author><name sortKey="Kosaka, K" sort="Kosaka, K" uniqKey="Kosaka K" first="K" last="Kosaka">K. Kosaka</name></author><author><name sortKey="Iwabuchi, K" sort="Iwabuchi, K" uniqKey="Iwabuchi K" first="K" last="Iwabuchi">K. Iwabuchi</name></author><author><name sortKey="Owada, M" sort="Owada, M" uniqKey="Owada M" first="M" last="Owada">M. Owada</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="1997" type="published">1997</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Alcohol Oxidoreductases (deficiency)</term><term>Antiparkinson Agents (administration & dosage)</term><term>Antiparkinson Agents (therapeutic use)</term><term>Base Sequence</term><term>Benserazide (administration & dosage)</term><term>Benserazide (therapeutic use)</term><term>Circadian Rhythm</term><term>Drug Therapy, Combination</term><term>Dystonia (drug therapy)</term><term>Dystonia (enzymology)</term><term>Dystonia (genetics)</term><term>Female</term><term>Homozygote</term><term>Humans</term><term>Levodopa (administration & dosage)</term><term>Levodopa (therapeutic use)</term><term>Molecular Sequence Data</term><term>Phosphorus-Oxygen Lyases</term><term>Point Mutation</term><term>Polymerase Chain Reaction</term><term>Pterins (urine)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="administration & dosage" xml:lang="en"><term>Antiparkinson Agents</term><term>Benserazide</term><term>Levodopa</term></keywords><keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>Alcohol Oxidoreductases</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Antiparkinson Agents</term><term>Benserazide</term><term>Levodopa</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Dystonia</term></keywords><keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Dystonia</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term></keywords><keywords scheme="MESH" type="chemical" qualifier="urine" xml:lang="en"><term>Pterins</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Base Sequence</term><term>Circadian Rhythm</term><term>Drug Therapy, Combination</term><term>Female</term><term>Homozygote</term><term>Humans</term><term>Molecular Sequence Data</term><term>Phosphorus-Oxygen Lyases</term><term>Point Mutation</term><term>Polymerase Chain Reaction</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report the case of a 44-year-old woman with a partial 6-pyruvoyl tetrahydropterin synthase (6-PTS) deficiency, whose predominant clinical symptom was generalized dystonia with marked diurnal fluctuation. Dystonia was present in the eyelids, oromandibular region, trunk, and extremities (Meige syndrome plus double hemiplegia-like dystonia). A marked and sustained positive response to levodopa was observed. A molecular genetic study revealed a homozygous mutation (I114V) in the 6-PTS gene. This study indicates that genetic abnormality in the 6-PTS gene may be a hereditary dystonia disorder. We speculate that our patient has residual 6-PTS activity in the central nervous system, such as in the liver, and we suggest that residual, but insufficient production of tetrahydrobiopterin may play an important role in causing diurnal fluctuation of symptoms.</div></front></TEI></PubMed></double></record>Pour manipuler ce document sous Unix (Dilib)
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