{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T16:23:28Z","timestamp":1791649408863,"version":"4.3.4"},"reference-count":16,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2005,3,3]],"date-time":"2005-03-03T00:00:00Z","timestamp":1109808000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2005,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Autosomal recessive forms of infantile dystonia due to mutations in the tyrosine hydroxylase (<jats:italic>TH<\/jats:italic>) 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\u2010hydroxyindolacetic 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 <jats:italic>TH<\/jats:italic> 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. \u00a9 2005 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.20416","type":"journal-article","created":{"date-parts":[[2005,3,3]],"date-time":"2005-03-03T19:16:34Z","timestamp":1109877394000},"page":"764-767","source":"Crossref","is-referenced-by-count":21,"title":["Levodopa\u2010responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections"],"prefix":"10.1002","volume":"20","author":[{"given":"Katharina","family":"Diepold","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Sch\u00fctz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Rostasy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernd","family":"Wilken","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pia","family":"Hougaard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flemming","family":"G\u00fcttler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Romstad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisbeth","family":"Birk M\u00f8ller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,3,3]]},"reference":[{"key":"e_1_2_7_2_2","first-page":"849","article-title":"Dystonia: phenotypes and genotypes","volume":"159","author":"Bressman SB","year":"2003","journal-title":"Rev Neurol"},{"key":"e_1_2_7_3_2","first-page":"215","article-title":"Hereditary progressive dystonia with marked diurnal fluctuation","volume":"14","author":"Segawa M","year":"1976","journal-title":"Adv Neurol"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.7.1209"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10632"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.60.4.618"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/0742-8413(91)90196-Z"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.2.260"},{"key":"e_1_2_7_9_2","doi-asserted-by":"crossref","first-page":"2073","DOI":"10.1093\/clinchem\/45.12.2073","article-title":"Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency","volume":"45","author":"Brautigam C","year":"1999","journal-title":"Clin Chem"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1026760602577"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.9.1398"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.87.4.358"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1021\/bi00396a007"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/14.24.9927"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050756"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.7.1023"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1159\/000472200"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.20416","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.20416","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T13:01:44Z","timestamp":1760965304000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.20416"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,3,3]]},"references-count":16,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2005,6]]}},"alternative-id":["10.1002\/mds.20416"],"URL":"https:\/\/doi.org\/10.1002\/mds.20416","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,3,3]]}}}