title: Alexander disease - astrogliopathy considered as leukodystrophy - experience of an institution.
abstract: Alexander Disease (ALXDRD) is an autosomal dominant leukodystrophy caused by mutation in one allele of GFAP gene, encoding glial fibrillary acidic protein (GFAP). Most cases occur due to de novo. There are three clinical subtypes of ALXDRD: infantile, juvenile and adult form, but congenital form is also outlined. The disease's spectrum comprises of macrocephaly, progressive pyramidal signs, and seizures in congenital and infantile subtypes. Neuropathologically are enormous number of Rosenthal fibers (RF) mainly around vessels, in subependymal and subpial regions are found. The diagnosis is based on the typical findings on MRI: diffuse white mater lesions with frontal regions preponderance and possibly on the detection of the gene mutation. Here we present six Polish children affected of Alexander disease with congenital (1), infantile (4) and juvenile (1) form. Five of them were previously misdiagnosed as cerebral palsy or unspecific developmental delay; two patients had MRI because of another suspicion, before specific diagnosis was established. Molecular analysis performed in four cases confirmed mutations of GFAP gene; all mutation were de novo. The role of astroglia in brain is shortly reviewed.
authors.affiliation: Department of Child and Adolescent Neurology, Institute of Mother and Child, Clinic of Child and Adolescent Neurology-IMD Kasprzaka 17A, 01-211 Warsaw, Poland tel/fax: (+48 22) 32-77-130 e-mail: h.mierzewska@gmail.com.
authors.forename: Hanna
authors.initials: H
authors.lastname: Mierzewska
authors.affiliation: Dept. of Pediatric Anaesthesiology and Intensive Unit, Warsaw Medical University, Poland.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Mierzewska-Schmidt
authors.affiliation: Dept. Clinical Chemistry, Metabolic Unit, VU Medical Center Amsterdam/Neuroscience School The Netherlands.
authors.forename: Gajja S
authors.initials: GS
authors.lastname: Salomons
authors.affiliation: Dept. of Child Neurology, Chorzowskie Centrum Pediatrii i Onkologii, Poland.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Dudzińska
authors.affiliation: Department of Child and Adolescent Neurology, Institute of Mother and Child, Warsaw, Poland.
authors.forename: Elżbieta
authors.initials: E
authors.lastname: Szczepanik
mesh_terms: D038261:Alexander Disease / Q000145:classification / Q000235:genetics* / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008526:Medulla Oblongata / Q000473:pathology*; D011044:Poland
chemical_list: D005904:Glial Fibrillary Acidic Protein
keywords: Alexander disease; GFAP gene; Leukodystrophy; MRI; Rosenthal fibers