GTP‐cyclohydrolase I gene mutations in hereditary progressive and dopa‐responsive dystonia
Identifieur interne : 003E41 ( Main/Exploration ); précédent : 003E40; suivant : 003E42GTP‐cyclohydrolase I gene mutations in hereditary progressive and dopa‐responsive dystonia
Auteurs : Michel P. Furukawa [Japon, Canada] ; Mitsunobu Shimadzu [Japon] ; Ali H. Rajput [Canada] ; Yumiko Shimuzu [Japon] ; Tetsuzo Tagawa [Japon] ; Hideo Mori [Japon] ; Masayuki Yokochi [Japon] ; Hirotaro Narabayashi [Japon] ; Oleh Hornykiewicz [Autriche] ; Yoshikuni Mizuno [Japon] ; Stephen J. Kish [Canada]Source :
- Annals of Neurology [ 0364-5134 ] ; 1996-05.
Abstract
Recently, mutations of the GTP‐cyclohydrolase I (GTP‐CH I) gene, which catalyzes the first step in the tetrahydrobiopterin (BH4) biosynthesis, were discovered in Japanese patients with hereditary progressive dystonial/dopa‐responsive dystonia (HPD/DRD). However, it has not been confirmed that non‐Japanese patients also contain mutations in the same gene, or whether these mutations are specific to HPD/DRD. In this study, two novel nonsense mutations in exon 1 of the GTP‐CH I gene and a new mutation at the splice acceptor site of intron 1 were identified in an autopsied case of English‐Irish descent and 2 Japanese patients with HPD/DRD. In the latter, cerebrospinal fluid (CSF) neopterin levels (which may reflect the GTP‐CH I activity in the brain) were reduced to 18% and 37% of controls. A therapeutic trial of oral BH4 was ineffective, however, in a genetically proven patient. In contrast, no mutations in any exons of the GTP‐CH I gene were found in 2 patients with early‐onset parkinsonism with dystonia (EOP‐D) who developed dopa‐responsive parkinsonism and dystonia at 6 and 8 years old, respectively. Neopterin levels in CSF were well preserved in 6 EOP‐D patients. These data suggest that, among patients of different racial backgrounds, the pathogenesis of HPD/DRD, unlike EOP‐D, involves partial reduction of the brain GTP‐CH I activity consequent to mutations in the GTP‐CH I gene. Measurement of CSF neopterin concentration may be useful for the differential diagnosis between HPD/DRD and EOP‐D.
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DOI: 10.1002/ana.410390510
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Rajput</name></author><author><name sortKey="Shimuzu, Yumiko" sort="Shimuzu, Yumiko" uniqKey="Shimuzu Y" first="Yumiko" last="Shimuzu">Yumiko Shimuzu</name></author><author><name sortKey="Tagawa, Tetsuzo" sort="Tagawa, Tetsuzo" uniqKey="Tagawa T" first="Tetsuzo" last="Tagawa">Tetsuzo Tagawa</name></author><author><name sortKey="Mori, Hideo" sort="Mori, Hideo" uniqKey="Mori H" first="Hideo" last="Mori">Hideo Mori</name></author><author><name sortKey="Yokochi, Masayuki" sort="Yokochi, Masayuki" uniqKey="Yokochi M" first="Masayuki" last="Yokochi">Masayuki Yokochi</name></author><author><name sortKey="Narabayashi, Hirotaro" sort="Narabayashi, Hirotaro" uniqKey="Narabayashi H" first="Hirotaro" last="Narabayashi">Hirotaro Narabayashi</name></author><author><name sortKey="Hornykiewicz, Oleh" sort="Hornykiewicz, Oleh" uniqKey="Hornykiewicz O" first="Oleh" last="Hornykiewicz">Oleh Hornykiewicz</name></author><author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name></author><author><name sortKey="Kish, Stephen J" sort="Kish, Stephen J" uniqKey="Kish S" first="Stephen J." last="Kish">Stephen J. 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Furukawa</name><affiliation wicri:level="3"><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName><wicri:orgArea>Department of Neurology, Juntendo University School of Medicine</wicri:orgArea></affiliation><affiliation wicri:level="2"><country>Canada</country><placeName><region type="province">Ontario</region></placeName><wicri:cityArea>Human Neurochemical Pathology Laboratory, Clarke Institute of Psychiatry, Toronto</wicri:cityArea></affiliation><affiliation wicri:level="1"><country>Canada</country><wicri:regionArea>Human Neurochemical pathology Laboratory, Clarke Institute of psychiatry, 250 College Street, Toronto</wicri:regionArea><wicri:noRegion>Toronto</wicri:noRegion></affiliation></author><author><name sortKey="Shimadzu, Mitsunobu" sort="Shimadzu, Mitsunobu" uniqKey="Shimadzu M" first="Mitsunobu" last="Shimadzu">Mitsunobu Shimadzu</name><affiliation wicri:level="3"><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName><wicri:orgArea>Department of Genetics, Mitsubishi Kagaku Bio Clinical Laboratories, Inc.</wicri:orgArea></affiliation></author><author><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H." last="Rajput">Ali H. Rajput</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, Royal University Hospital, Saskatoon, Saskatchewan</wicri:regionArea><wicri:noRegion>Saskatchewan</wicri:noRegion></affiliation></author><author><name sortKey="Shimuzu, Yumiko" sort="Shimuzu, Yumiko" uniqKey="Shimuzu Y" first="Yumiko" last="Shimuzu">Yumiko Shimuzu</name><affiliation wicri:level="3"><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName><wicri:orgArea>Department of Neurology, Juntendo University School of Medicine</wicri:orgArea></affiliation></author><author><name sortKey="Tagawa, Tetsuzo" sort="Tagawa, Tetsuzo" uniqKey="Tagawa T" first="Tetsuzo" last="Tagawa">Tetsuzo Tagawa</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Osaka Kouseinenkin Hospital, Osaka</wicri:regionArea><wicri:noRegion>Osaka</wicri:noRegion></affiliation></author><author><name sortKey="Mori, Hideo" sort="Mori, Hideo" uniqKey="Mori H" first="Hideo" last="Mori">Hideo Mori</name><affiliation wicri:level="3"><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName><wicri:orgArea>Department of Neurology, Juntendo University School of Medicine</wicri:orgArea></affiliation></author><author><name sortKey="Yokochi, Masayuki" sort="Yokochi, Masayuki" uniqKey="Yokochi M" first="Masayuki" last="Yokochi">Masayuki Yokochi</name><affiliation wicri:level="3"><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName><wicri:orgArea>Department of Neurology, Tokay, Metropolitan Ebara Hospital</wicri:orgArea></affiliation></author><author><name sortKey="Narabayashi, Hirotaro" sort="Narabayashi, Hirotaro" uniqKey="Narabayashi H" first="Hirotaro" last="Narabayashi">Hirotaro Narabayashi</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurological Clinic, Osaka Kouseinenkin Hospital, Osaka</wicri:regionArea><wicri:noRegion>Osaka</wicri:noRegion></affiliation></author><author><name sortKey="Hornykiewicz, Oleh" sort="Hornykiewicz, Oleh" uniqKey="Hornykiewicz O" first="Oleh" last="Hornykiewicz">Oleh Hornykiewicz</name><affiliation wicri:level="3"><country xml:lang="fr">Autriche</country><wicri:regionArea>Institute of Biochemical Pharmacology, University of Vienna, Vienna</wicri:regionArea><placeName><settlement type="city">Vienne (Autriche)</settlement><region nuts="2" type="province">Vienne (Autriche)</region></placeName></affiliation></author><author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name><affiliation wicri:level="3"><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName><wicri:orgArea>Department of Neurology, Juntendo University School of Medicine</wicri:orgArea></affiliation></author><author><name sortKey="Kish, Stephen J" sort="Kish, Stephen J" uniqKey="Kish S" first="Stephen J." last="Kish">Stephen J. Kish</name><affiliation wicri:level="2"><country>Canada</country><placeName><region type="province">Ontario</region></placeName><wicri:cityArea>Human Neurochemical Pathology Laboratory, Clarke Institute of Psychiatry, Toronto</wicri:cityArea></affiliation></author></analytic><monogr></monogr><series><title level="j">Annals of Neurology</title><title level="j" type="sub">Official Journal of the American Neurological Association and the Child Neurology Society</title><title level="j" type="abbrev">Ann Neurol.</title><idno type="ISSN">0364-5134</idno><idno type="eISSN">1531-8249</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="1996-05">1996-05</date><biblScope unit="volume">39</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="609">609</biblScope><biblScope unit="page" to="617">617</biblScope></imprint><idno type="ISSN">0364-5134</idno></series><idno type="istex">4FEE019794FA1653B1F2EAF460192438D688314D</idno><idno type="DOI">10.1002/ana.410390510</idno><idno type="ArticleID">ANA410390510</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0364-5134</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Recently, mutations of the GTP‐cyclohydrolase I (GTP‐CH I) gene, which catalyzes the first step in the tetrahydrobiopterin (BH4) biosynthesis, were discovered in Japanese patients with hereditary progressive dystonial/dopa‐responsive dystonia (HPD/DRD). However, it has not been confirmed that non‐Japanese patients also contain mutations in the same gene, or whether these mutations are specific to HPD/DRD. In this study, two novel nonsense mutations in exon 1 of the GTP‐CH I gene and a new mutation at the splice acceptor site of intron 1 were identified in an autopsied case of English‐Irish descent and 2 Japanese patients with HPD/DRD. In the latter, cerebrospinal fluid (CSF) neopterin levels (which may reflect the GTP‐CH I activity in the brain) were reduced to 18% and 37% of controls. A therapeutic trial of oral BH4 was ineffective, however, in a genetically proven patient. In contrast, no mutations in any exons of the GTP‐CH I gene were found in 2 patients with early‐onset parkinsonism with dystonia (EOP‐D) who developed dopa‐responsive parkinsonism and dystonia at 6 and 8 years old, respectively. Neopterin levels in CSF were well preserved in 6 EOP‐D patients. These data suggest that, among patients of different racial backgrounds, the pathogenesis of HPD/DRD, unlike EOP‐D, involves partial reduction of the brain GTP‐CH I activity consequent to mutations in the GTP‐CH I gene. Measurement of CSF neopterin concentration may be useful for the differential diagnosis between HPD/DRD and EOP‐D.</div></front></TEI><affiliations><list><country><li>Autriche</li><li>Canada</li><li>Japon</li></country><region><li>Ontario</li><li>Vienne (Autriche)</li></region><settlement><li>Tokyo</li><li>Vienne (Autriche)</li></settlement></list><tree><country name="Japon"><noRegion><name sortKey="Furukawa, Michel P" sort="Furukawa, Michel P" uniqKey="Furukawa M" first="Michel P." last="Furukawa">Michel P. Furukawa</name></noRegion><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name><name sortKey="Mori, Hideo" sort="Mori, Hideo" uniqKey="Mori H" first="Hideo" last="Mori">Hideo Mori</name><name sortKey="Narabayashi, Hirotaro" sort="Narabayashi, Hirotaro" uniqKey="Narabayashi H" first="Hirotaro" last="Narabayashi">Hirotaro Narabayashi</name><name sortKey="Shimadzu, Mitsunobu" sort="Shimadzu, Mitsunobu" uniqKey="Shimadzu M" first="Mitsunobu" last="Shimadzu">Mitsunobu Shimadzu</name><name sortKey="Shimuzu, Yumiko" sort="Shimuzu, Yumiko" uniqKey="Shimuzu Y" first="Yumiko" last="Shimuzu">Yumiko Shimuzu</name><name sortKey="Tagawa, Tetsuzo" sort="Tagawa, Tetsuzo" uniqKey="Tagawa T" first="Tetsuzo" last="Tagawa">Tetsuzo Tagawa</name><name sortKey="Yokochi, Masayuki" sort="Yokochi, Masayuki" uniqKey="Yokochi M" first="Masayuki" last="Yokochi">Masayuki Yokochi</name></country><country name="Canada"><region name="Ontario"><name sortKey="Furukawa, Michel P" sort="Furukawa, Michel P" uniqKey="Furukawa M" first="Michel P." last="Furukawa">Michel P. Furukawa</name></region><name sortKey="Furukawa, Michel P" sort="Furukawa, Michel P" uniqKey="Furukawa M" first="Michel P." last="Furukawa">Michel P. Furukawa</name><name sortKey="Kish, Stephen J" sort="Kish, Stephen J" uniqKey="Kish S" first="Stephen J." last="Kish">Stephen J. Kish</name><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H." last="Rajput">Ali H. Rajput</name></country><country name="Autriche"><region name="Vienne (Autriche)"><name sortKey="Hornykiewicz, Oleh" sort="Hornykiewicz, Oleh" uniqKey="Hornykiewicz O" first="Oleh" last="Hornykiewicz">Oleh Hornykiewicz</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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