title: Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene.
authors.forename: Reetta
authors.initials: R
authors.lastname: Hinttala
authors.forename: Vesa
authors.initials: V
authors.lastname: Karttunen
authors.forename: Ari
authors.initials: A
authors.lastname: Karttunen
authors.forename: Riitta
authors.initials: R
authors.lastname: Herva
authors.forename: Johanna
authors.initials: J
authors.lastname: Uusimaa
authors.forename: Anne M
authors.initials: AM
authors.lastname: Remes
mesh_terms: D000328:Adult; D038261:Alexander Disease / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D019943:Amino Acid Substitution / Q000235:genetics; D001253:Astrocytes / Q000378:metabolism / Q000473:pathology*; D001284:Atrophy / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D001344:Autopsy; D001921:Brain / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D004252:DNA Mutational Analysis; D018450:Disease Progression; D017809:Fatal Outcome; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009133:Muscular Atrophy / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D009413:Nerve Fibers, Myelinated / Q000378:metabolism / Q000473:pathology*; D009778:Occipital Lobe / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D010641:Phenotype; D013116:Spinal Cord / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology