{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T22:34:38Z","timestamp":1777329278284,"version":"3.51.4"},"reference-count":17,"publisher":"Walter de Gruyter GmbH","issue":"2","license":[{"start":{"date-parts":[[2019,11,1]],"date-time":"2019-11-01T00:00:00Z","timestamp":1572566400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,12,21]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Alexander disease (AxD) is a rare autosomal dominant leukodystrophy with three clinical subtypes: infantile, juvenile and adult. Forms differ by age of symptoms occurrence and the clinical presentation. Although recent data suggest considering only two subtypes: type I (infantile onset with lesions extending to the cerebral hemispheres); type II (adult onset with primary involvement of subtentorial structures). Dominant mutations in the glial fibrillary acidic protein (\n                    <jats:italic>GFAP<\/jats:italic>\n                    ) gene in AxD cause dysfunction of astrocytes (a type III intermediate filament). The authors discuss the clinical picture of a boy with infantile form of AxD confirmed by the presence of\n                    <jats:italic>de novo<\/jats:italic>\n                    heterozygous mutation c.236G&gt;A in the\n                    <jats:italic>GFAP<\/jats:italic>\n                    gene and without striking symptoms such as macrocephaly and with exceptional late-onset epileptic spasms with hypsarrhyth- mia on electroencephalogram (EEG).\n                  <\/jats:p>","DOI":"10.2478\/bjmg-2019-0017","type":"journal-article","created":{"date-parts":[[2019,12,22]],"date-time":"2019-12-22T04:04:25Z","timestamp":1576987465000},"page":"77-82","source":"Crossref","is-referenced-by-count":7,"title":["Infantile Alexander disease with late onset infantile spasms and hypsarrhythmia"],"prefix":"10.2478","volume":"22","author":[{"given":"J","family":"Paprocka","sequence":"first","affiliation":[{"name":"Department of Paediatric Neurology, School of Medicine, Medical University of Silesia , Katowice , Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Rzepka-Migut","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, St. Queen Jadwiga\u2019s Regional Clinical Hospital , No. 2 , Rzesz\u00f3w , Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Rzepka","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, St. Queen Jadwiga\u2019s Regional Clinical Hospital , No. 2 , Rzesz\u00f3w , Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Jezela-Stanek","sequence":"additional","affiliation":[{"name":"Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases , Warsaw , Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Morava","sequence":"additional","affiliation":[{"name":"Hayward Genetics Center, Tulane University School of Medicine , New Orleans , LA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2019,12,21]]},"reference":[{"key":"2026042716351802530_j_bjmg-2019-0017_ref_001","doi-asserted-by":"crossref","unstructured":"Tonduti D, Ardissone A, Ceccherini I, Giaccone G, Farina L, Moroni I. Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease. Neurol Sci. 2016; 37(6): 973-977.","DOI":"10.1007\/s10072-015-2466-9"},{"key":"2026042716351802530_j_bjmg-2019-0017_ref_002","doi-asserted-by":"crossref","unstructured":"Nishri D, Edvardson S, Lev D, Leshinsky-Silver E, Ben-Sira L, Henneke M, Lerman-Sagie T, Blumkin L. Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder. Eur J Paediatr Neurol. 2014; 18(4): 495-501.","DOI":"10.1016\/j.ejpn.2014.03.009"},{"key":"2026042716351802530_j_bjmg-2019-0017_ref_003","unstructured":"Ashrafi MR, Tavasoli A, Aryani O, Alizadeh H, Houshmand M. Alexander disease: Report of two unrelated infantile form cases, identified by GFAP mutation analysis and review of literature; the first report from Iran. Iran J Pediatr. 2013; 23(4): 481-484."},{"key":"2026042716351802530_j_bjmg-2019-0017_ref_004","doi-asserted-by":"crossref","unstructured":"Goyal M, Mehndiratta S, Faruq M, Dwived MK, Kapoor S. Infantile onset Alexander disease with normal head circumference: a genetically proven case report. J Clin Diagn Res. 2014; 8(11): 3-4.","DOI":"10.7860\/JCDR\/2014\/10211.5200"},{"key":"2026042716351802530_j_bjmg-2019-0017_ref_005","doi-asserted-by":"crossref","unstructured":"Poloni CB, Ferey S, Haenggeli CA, Delavelle J, Bottani A, Salomons GS, et al. Alexander disease: early presence of cerebral MRI criteria. Eur J Paediatr Neurol. 2009; 13(6): 556-558.","DOI":"10.1016\/j.ejpn.2008.11.008"},{"key":"2026042716351802530_j_bjmg-2019-0017_ref_006","doi-asserted-by":"crossref","unstructured":"Olabaria M, Putilina M, Riemer EC, Goldman JE. Astrocyte pathology in Alexander disease causes a marked inflammatory environment. Acta Neuropathol. 2015; 130(4): 469-486.","DOI":"10.1007\/s00401-015-1469-1"},{"key":"2026042716351802530_j_bjmg-2019-0017_ref_007","unstructured":"Van der Knaap MS, Naidu S, Breiter SN, Blaser S, Stroink H, Springer S, et al. Alexander disease: Diagnosis with MR imaging. Am J Neuroradiol. 2001; 22(3): 541-552."},{"key":"2026042716351802530_j_bjmg-2019-0017_ref_008","doi-asserted-by":"crossref","unstructured":"Gorospe JR, Naidu S, Johnson AB, Puri V, Raymond GV, Jenkins SD, et al. Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. Neurology. 2002; 58(10): 1494-1500.","DOI":"10.1212\/WNL.58.10.1494"},{"key":"2026042716351802530_j_bjmg-2019-0017_ref_009","doi-asserted-by":"crossref","unstructured":"Li R, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, et al. Glial fibrillary acidic protein mutations in infantile , juvenile, and adult forms of Alexander disease. 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