{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,17]],"date-time":"2023-10-17T00:10:32Z","timestamp":1697501432941},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2006,3,24]],"date-time":"2006-03-24T00:00:00Z","timestamp":1143158400000},"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":[[2006,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To delineate the features of a novel neurodegenerative disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report three children of three related families with congenital microphthalmia and blindness, and progressive spasticity, microcephaly, seizures, and profound mental retardation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A magnetic resonance imaging scan was normal at birth. However, follow\u2010up studies showed progressive atrophy involving the cerebral white matter and cortex, cerebellum, brainstem, and corpus callosum. The white matter changes extended into the subcortical region leaving only small islands of remaining cortical tissue. Known metabolic conditions involving white matter degeneration were excluded.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>We propose this to be a novel autosomal recessive neurodegenerative disorder to be coined MOBA (<jats:italic>m<\/jats:italic>icr<jats:italic>o<\/jats:italic>phthalmia <jats:italic>b<\/jats:italic>rain <jats:italic>a<\/jats:italic>trophy) disease. Ann Neurol 2006;59:719\u2013723<\/jats:p><\/jats:sec>","DOI":"10.1002\/ana.20827","type":"journal-article","created":{"date-parts":[[2006,3,24]],"date-time":"2006-03-24T23:17:41Z","timestamp":1143242261000},"page":"719-723","source":"Crossref","is-referenced-by-count":5,"title":["Microphthalmia and brain atrophy: A novel neurodegenerative disease"],"prefix":"10.1002","volume":"59","author":[{"given":"\u00d8ivind J.","family":"Kanavin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monika","family":"Haakonsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e8s","family":"Server","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tariq J.","family":"Bajwa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marjo S.","family":"van der Knaap","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petter","family":"Str\u00f8mme","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,3,24]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1076\/0928-6586(200006)721-ZFT127"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.317.7163.905"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.8.664"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/eye.2000.18"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20671"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(00)00540-6"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-3768.1968.tb02813.x"},{"key":"e_1_2_6_9_2","first-page":"297","article-title":"An evaluation of selected human eye dimensions at different periods of the foetal life","volume":"62","author":"Tomasik E","year":"2003","journal-title":"Folia Morphol (Warsz)"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1080\/02841850410006128"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.48.4.845"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-2171(00)90036-2"},{"key":"e_1_2_6_13_2","series-title":"Mariani Foundation Paediatric Neurology Series","first-page":"43","volume-title":"Hereditary leukoencephalopathies in demyelinating neuropathies in children","author":"Schiffmann R","year":"2004"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrg1202"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1086\/430721"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.20827","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.20827","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T23:40:01Z","timestamp":1697499601000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.20827"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,3,24]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2006,4]]}},"alternative-id":["10.1002\/ana.20827"],"URL":"https:\/\/doi.org\/10.1002\/ana.20827","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,3,24]]}}}