{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T09:11:25Z","timestamp":1771060285775,"version":"3.50.1"},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,11,4]],"date-time":"2004-11-04T00:00:00Z","timestamp":1099526400000},"content-version":"vor","delay-in-days":2744,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[1997,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report the case of a 44\u2010year\u2010old woman with a partial 6\u2010pyruvoyl tetrahydropterin synthase (6\u2010PTS) 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\u2010like dystonia). A marked and sustained positive response to levodopa was observed. A molecular genetic study revealed a homozygous mutation (I114V) in the 6\u2010PTS gene. This study indicates that genetic abnormality in the 6\u2010PTS gene may be a hereditary dystonic disorder. We speculate that our patient has residual 6\u2010PTS 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.<\/jats:p>","DOI":"10.1002\/mds.870120321","type":"journal-article","created":{"date-parts":[[2005,5,28]],"date-time":"2005-05-28T20:20:30Z","timestamp":1117311630000},"page":"408-411","source":"Crossref","is-referenced-by-count":56,"title":["6\u2010Pyruvoyl\u2010tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: A clinical and molecular study"],"prefix":"10.1002","volume":"12","author":[{"given":"T.","family":"Hanihara","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Inoue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Kawanishi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Sugiyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Miyakawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Onishi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Yamada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Osaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Kosaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Iwabuchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Owada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,11,4]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1515\/pteridines.1993.4.1.1"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.41.5.730"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.37.3.519"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.38.5.707"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194-236"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1994.1642"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.41.6.930"},{"key":"e_1_2_1_9_2","first-page":"215","volume-title":"Advances in neurology","author":"Segawa M","year":"1976"},{"key":"e_1_2_1_10_2","first-page":"377","volume-title":"Advances in neurology","author":"Nygaard TG","year":"1988"},{"key":"e_1_2_1_11_2","first-page":"782","article-title":"Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6\u2010pyruvoyl\u2010tetrahydropterin synthase","volume":"54","author":"Th\u00f6ny B","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.56.8.865"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00225091"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1996.0477h.x"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.870120321","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.870120321","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T12:27:48Z","timestamp":1760963268000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.870120321"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,5]]},"references-count":13,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1997,5]]}},"alternative-id":["10.1002\/mds.870120321"],"URL":"https:\/\/doi.org\/10.1002\/mds.870120321","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,5]]}}}