{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T16:04:14Z","timestamp":1772640254318,"version":"3.50.1"},"reference-count":0,"publisher":"Georg Thieme Verlag KG","issue":"04","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2018,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Alexander disease (AxD) is a genetic leukodystrophy caused by GFAP mutations leading to astrocyte dysfunction. Neonatal AxD is a rare phenotype with onset in the first month of life. The proband, belonging to a large pedigree with dominantly inherited benign familial neonatal epilepsy (BFNE), had a phenotype distinct from the rest of the family, with hypotonia and macrocephaly in addition to drug-resistant neonatal seizures. The patient deteriorated and passed away at 6 weeks of age. The pathological and neuroimaging data were consistent with the diagnosis of AxD. Genetic analysis of the proband identified a novel de novo GFAP missense mutation and a KCNQ2 splice site mutation segregating with the BFNE phenotype in the family. The GFAP mutation was located in the coil 2B region of GFAP protein, similar to most neonatal-onset AxD cases with an early death. The clinical and neuroradiological features of the previously published neonatal AxD patients are presented. This study further supports the classification of neonatal-onset AxD as a distinct phenotype based on the age of onset.<\/jats:p>","DOI":"10.1055\/s-0038-1649500","type":"journal-article","created":{"date-parts":[[2018,5,25]],"date-time":"2018-05-25T23:01:06Z","timestamp":1527289266000},"page":"256-261","source":"Crossref","is-referenced-by-count":10,"title":["Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases"],"prefix":"10.1055","volume":"49","author":[{"given":"Oula","family":"Knuutinen","sequence":"first","affiliation":[{"name":"PEDEGO Research Unit, University of Oulu, Finland"},{"name":"Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Finland"},{"name":"Biocenter Oulu, University of Oulu, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Kousi","sequence":"first","affiliation":[{"name":"Folkh\u00e4lsan Institute of Genetics, Helsinki, Finland"},{"name":"Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Suo-Palosaari","sequence":"first","affiliation":[{"name":"Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Finland"},{"name":"Department of Diagnostic Radiology, Oulu University Hospital, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jukka","family":"Moilanen","sequence":"first","affiliation":[{"name":"PEDEGO Research Unit, University of Oulu, Finland"},{"name":"Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Finland"},{"name":"Department of Clinical Genetics, Oulu University Hospital, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannu","family":"Tuominen","sequence":"first","affiliation":[{"name":"Department of Pathology, Cancer and Translational Medicine Research Unit, University of Oulu and Oulu University Hospital, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leena","family":"Vainionp\u00e4\u00e4","sequence":"first","affiliation":[{"name":"Clinic for Children and Adolescents, Oulu University Hospital, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tarja","family":"Joensuu","sequence":"first","affiliation":[{"name":"Folkh\u00e4lsan Institute of Genetics, Helsinki, Finland"},{"name":"Neuroscience Center, University of Helsinki, Finland"},{"name":"Research Programs Unit, Molecular Neurology, University of Helsinki, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna-Kaisa","family":"Anttonen","sequence":"first","affiliation":[{"name":"Folkh\u00e4lsan Institute of Genetics, Helsinki, Finland"},{"name":"Neuroscience Center, University of Helsinki, Finland"},{"name":"Research Programs Unit, Molecular Neurology, University of Helsinki, Finland"},{"name":"Medical and Clinical Genetics, University of Helsinki and Helsinki University Hospital, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johanna","family":"Uusimaa","sequence":"first","affiliation":[{"name":"PEDEGO Research Unit, University of Oulu, Finland"},{"name":"Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Finland"},{"name":"Biocenter Oulu, University of Oulu, Finland"},{"name":"Clinic for Children and Adolescents, Oulu University Hospital, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna-Elina","family":"Lehesjoki","sequence":"first","affiliation":[{"name":"Folkh\u00e4lsan Institute of Genetics, Helsinki, Finland"},{"name":"Neuroscience Center, University of Helsinki, Finland"},{"name":"Research Programs Unit, Molecular Neurology, University of Helsinki, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P\u00e4ivi","family":"Vieira","sequence":"additional","affiliation":[{"name":"PEDEGO Research Unit, University of Oulu, Finland"},{"name":"Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Finland"},{"name":"Clinic for Children and Adolescents, Oulu University Hospital, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2018,5,25]]},"container-title":["Neuropediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0038-1649500.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,7,9]],"date-time":"2018-07-09T22:51:32Z","timestamp":1531176692000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0038-1649500"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,5,25]]},"references-count":0,"journal-issue":{"issue":"04","published-online":{"date-parts":[[2018,7,9]]},"published-print":{"date-parts":[[2018,8]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0038-1649500","relation":{},"ISSN":["0174-304X","1439-1899"],"issn-type":[{"value":"0174-304X","type":"print"},{"value":"1439-1899","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,5,25]]}}}