{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,5]],"date-time":"2024-09-05T16:54:05Z","timestamp":1725555245085},"reference-count":18,"publisher":"FapUNIFESP (SciELO)","issue":"2A","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2007,6]]},"abstract":"<jats:p>Lipofuscinose cer\u00f3ide neuronal (LCN) constitui um grupo de doen\u00e7as neurodegenerativas caracterizadas pelo dep\u00f3sito anormal de uma subst\u00e2ncia autofluorescente de lipopigmentos, que lembra cer\u00f3ide e lipofuscina, dentro dos lisossomos dos neur\u00f4nios e outros tipos de c\u00e9lulas. Os principais subtipos fenot\u00edpicos, baseando-se na idade de in\u00edcio, curso cl\u00ednico e morfologia ultraestrutural, s\u00e3o classificados em formas infantil, infantil tardia, juvenil e adulta. Seis genes associados a lipofuscinose cer\u00f3ide foram identificados e aproximadamente 150 muta\u00e7\u00f5es tamb\u00e9m s\u00e3o descritas. Relatamos sete pacientes com LCN baseados na hist\u00f3ria cl\u00ednica, achados neurorradiol\u00f3gicos e patol\u00f3gicos avaliados na Rede Sarah de Hospitais de Reabilita\u00e7\u00e3o - Fortaleza - Cear\u00e1 - Brasil. Cinco casos foram confirmados com bi\u00f3psia de pele, sendo dois casos irm\u00e3os de pacientes confirmados. O diagn\u00f3stico precoce de LCN, uma doen\u00e7a com heran\u00e7a autoss\u00f4mica recessiva, \u00e9 mandat\u00f3rio para aconselhamento gen\u00e9tico e preven\u00e7\u00e3o de outros casos na fam\u00edlia. Os achados de imagem podem contribuir no diagn\u00f3stico diferencial.<\/jats:p>","DOI":"10.1590\/s0004-282x2007000200025","type":"journal-article","created":{"date-parts":[[2007,9,28]],"date-time":"2007-09-28T03:00:39Z","timestamp":1190948439000},"page":"320-326","source":"Crossref","is-referenced-by-count":6,"title":["Lipofuscinose cer\u00f3ide neuronal: achados cl\u00ednicos e neurorradiol\u00f3gicos"],"prefix":"10.1590","volume":"65","author":[{"given":"R\u00f4mulo Lopes","family":"Gama","sequence":"first","affiliation":[{"name":"Rede Sarah de Hospitais de Reabilita\u00e7\u00e3o, Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mauro","family":"Nakayama","sequence":"additional","affiliation":[{"name":"Rede Sarah de Hospitais de Reabilita\u00e7\u00e3o, Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel Gurgel Fernandes","family":"T\u00e1vora","sequence":"additional","affiliation":[{"name":"Rede Sarah de Hospitais de 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