{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T16:38:14Z","timestamp":1787503094462,"version":"build-2736575974"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2009,2,27]],"date-time":"2009-02-27T00:00:00Z","timestamp":1235692800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2009,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    We report on a girl with early onset Huntington disease (HD). Her initial symptoms at 2 years of age included oral motor dysfunction and gait disturbance. Magnetic resonance imaging of the head revealed severe atrophy of both the vermis and the cerebellar cortex in addition to the common findings of basal ganglia including the caudate nuclei, putamen, and globus pallidus. Molecular analysis showed 160 CAG repeats in the\n                    <jats:italic>HD<\/jats:italic>\n                    gene. This mutation was inherited from her mother who was also affected, with a\n                    <jats:italic>HD<\/jats:italic>\n                    CAG expansion of 60 repeats. Cerebellar symptoms should be considered as a manifestation of early onset HD. \u00a9 2009 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.32707","type":"journal-article","created":{"date-parts":[[2009,2,27]],"date-time":"2009-02-27T14:25:14Z","timestamp":1235744714000},"page":"598-601","source":"Crossref","is-referenced-by-count":23,"title":["A patient with early onset Huntington disease and severe cerebellar atrophy"],"prefix":"10.1002","volume":"149A","author":[{"given":"Satoru","family":"Sakazume","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Yoshinari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eiji","family":"Oguma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emi","family":"Utsuno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takuma","family":"Ishii","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoko","family":"Narumi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Shiihara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirofumi","family":"Ohashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,3,24]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.4.708"},{"key":"e_1_2_6_3_1","doi-asserted-by":"crossref","first-page":"223","DOI":"10.2310\/7010.2006.00055","article-title":"Clinical characteristics of childhood\u2010onset (juvenile) Huntington disease: Report of 12 patients and review of the literature","volume":"21","author":"Gonzalez\u2010Alegre P","year":"2006","journal-title":"J Child Neurol"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90585-E"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21620"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2003.00108.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30891"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mrdd.1022"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.52.2.392"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20557"},{"key":"e_1_2_6_11_1","first-page":"593","article-title":"Anticipation and instability of IT\u201015 (CAG)n repeats in parent\u2010offspring pairs with Huntington disease","volume":"57","author":"Ranen NG","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2000-7461"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.64.6.813"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2007.116244"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-004-1537-3"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000238390.86304.4e"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32707","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32707","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T00:12:58Z","timestamp":1697587978000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32707"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,3,24]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,4]]}},"alternative-id":["10.1002\/ajmg.a.32707"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32707","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,3,24]]}}}