{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T22:06:58Z","timestamp":1790201218088,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2003,10,30]],"date-time":"2003-10-30T00:00:00Z","timestamp":1067472000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2003,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a family of Slovenian descent with progressive ataxia, corticospinal signs, axonal sensorimotor neuropathy, and disruption of visual fixation by saccadic intrusions. Chromosome mapping indicated a mutation on 1p36, and this recessive disorder has been designated <jats:italic>spinocerebellar ataxia with saccadic intrusions<\/jats:italic>. Affected patients showed overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades; other eye movements were normal. Slowed conduction in axons that are selectively vulnerable to the molecular defect could explain both the sensorimotor neuropathy and the saccadic disorder, which would be caused by delayed feedback control because of slow conduction in cerebellar parallel fibers.<\/jats:p><jats:p>Supplementary material to this article can be viewed online at <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/www.interscience.wiley.com\/suppmat\/0364-5134\/suppmat\/54_6\">www.interscience.wiley.com\/jpages\/0364\u20105134\/suppmat\/54_6<\/jats:ext-link>.<\/jats:p>","DOI":"10.1002\/ana.10758","type":"journal-article","created":{"date-parts":[[2003,12,12]],"date-time":"2003-12-12T22:00:48Z","timestamp":1071266448000},"page":"824-828","source":"Crossref","is-referenced-by-count":35,"title":["Pathogenesis of clinical signs in recessive ataxia with saccadic intrusions"],"prefix":"10.1002","volume":"54","author":[{"given":"Barbara E.","family":"Swartz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheng","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina","family":"Bespalova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margit","family":"Burmeister","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugene","family":"Dulaney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farrel R.","family":"Robinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. John","family":"Leigh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,10,30]]},"reference":[{"key":"e_1_2_6_2_2","first-page":"1","article-title":"Clinical features and classification of inherited ataxias","volume":"61","author":"Harding AE","year":"1993","journal-title":"Adv Neurol"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.4065\/75.5.475"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-002-0072-8"},{"key":"e_1_2_6_5_2","volume-title":"The neurology of eye movements","author":"Leigh RJ","year":"1999"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.neuro.24.1.981"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.2002.tb02850.x"},{"key":"e_1_2_6_8_2","first-page":"528","article-title":"A new recessive syndrome of cerebellar ataxia with saccadic intrusions maps to 1p36","volume":"71","author":"Burmeister M","year":"2002","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_9_2","first-page":"865","article-title":"A new recessive syndrome of cerebellar ataxia with saccadic intrusions and sensorimotor neuropathy (CASI) maps to Chr1p36","volume":"52","author":"Swartz BE","year":"2002","journal-title":"Ann Neurol"},{"key":"e_1_2_6_10_2","first-page":"129","article-title":"Dynamic properties of horizontal and vertical eye movements in parkinsonian syndromes","volume":"36","author":"Rottach KG","year":"1996","journal-title":"Ann Neurol"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00867423"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00221-001-0912-9"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.2002.tb02817.x"},{"key":"e_1_2_6_14_2","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1152\/jn.1993.70.5.1723","article-title":"Role of the caudal fastigial nucleus in saccade generation. 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Neuronal discharge patterns","volume":"70","author":"Fuchs AF","year":"1993","journal-title":"J Neurophysiol"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1152\/jn.1993.70.5.1741"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/cne.902650207"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/cne.903020211"},{"key":"e_1_2_6_18_2","article-title":"Interrupting parallel fibers in the oculomotor vermis causes hypermetric horizontal saccades","volume":"29","author":"Robinson FR","year":"2003","journal-title":"Soc Neurosci Abstr"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0079-6123(08)60971-1"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1038\/35011062"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(01)00564-0"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.10758","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.10758","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T06:17:06Z","timestamp":1700201826000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.10758"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,10,30]]},"references-count":20,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2003,12]]}},"alternative-id":["10.1002\/ana.10758"],"URL":"https:\/\/doi.org\/10.1002\/ana.10758","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,10,30]]}}}