title: Late-onset Alexander disease with a V87L mutation in glial fibrillary acidic protein (GFAP) and calcifying lesions in the sub-cortex and cortex.
abstract: Glial fibrillary acidic protein (GFAP) mutation has been reported in Alexander disease. We report a 31-year-old woman suffering from Alexander disease with a V87L mutation in GFAP. She showed psychomotor regression and a history of seizures, in addition to pendular nystagmus, dysarthria, spastic gait, and bladder dysfunction. Brain magnetic resonance imaging (MRI) showed atrophy of the medulla oblongata and mild cervical cord atrophy, deep white matter abnormalities, periventricular rim, and signal changes of the medulla oblongata and dentate hilum. Sequence analysis of her GFAP gene showed a heterozygous c.273G>C mutation predictive of a p.V87L amino acid substitution. We concluded that she was actually affected with Alexander disease. Twenty months later she fell down and sustained a head contusion. Urgent head computed tomography (CT) showed calcification in the subcortical and cortical regions, which may relate to the psychomotor regression and history of seizures. Calcification in the subcortical and cortical regions on head CT has not been reported in Alexander disease; this may be associated with a V87L mutation in GFAP.
authors.affiliation: Department of Neurology, Kinki University School of Medicine, 377-2 Ohno-Higashi, Osaka-Sayama, Osaka, 589-8511, Japan. ide_green@74yahoo.co.jp
authors.forename: Hidekazu
authors.initials: H
authors.lastname: Suzuki
authors.forename: Tomokatsu
authors.initials: T
authors.lastname: Yoshida
authors.forename: Mari
authors.initials: M
authors.lastname: Kitada
authors.forename: Juri
authors.initials: J
authors.lastname: Ichihashi
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Sasayama
authors.forename: Yoshiro
authors.initials: Y
authors.lastname: Nishikawa
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Mistui
authors.forename: Masanori
authors.initials: M
authors.lastname: Nakagawa
authors.forename: Susumu
authors.initials: S
authors.lastname: Kusunoki
mesh_terms: D000328:Adult; D038261:Alexander Disease / Q000150:complications / Q000235:genetics / Q000473:pathology; D001921:Brain / Q000473:pathology*; D002114:Calcinosis / Q000209:etiology*; D004252:DNA Mutational Analysis; D005260:Female; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics*; D006801:Humans; D007930:Leucine / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D009154:Mutation / Q000235:genetics*; D014633:Valine / Q000235:genetics*
chemical_list: D005904:Glial Fibrillary Acidic Protein; D007930:Leucine; D014633:Valine