title: Glial fibrillary acidic protein mutations in adult-onset Alexander disease: clinical features observed in 12 Japanese patients.
abstract: OBJECTIVE
  To clarify the clinical manifestations of adult-onset Alexander disease (AOAD) in Japanese patients with glial fibrillary acidic protein (GFAP) gene mutations.
  
  
  METHODS
  Twelve patients of AOAD with GFAP mutations detected in our centre were examined for neurological and magnetic resonance imaging (MRI) findings.
  
  
  RESULTS
  Major symptoms were pyramidal and bulbar signs. In addition, three patients presented abnormal behaviour and/or memory disturbance. Two of the three patients also had Parkinsonism and had been diagnosed with fronto-temporal dementia or progressive supranuclear palsy until GFAP mutations were detected. Abnormalities of the medulla oblongata and cervical spinal cord were observed on MRI in all patients.
  
  
  CONCLUSIONS
  Patients presenting with pyramidal and/or bulbar signs with abnormalities of the medulla oblongata and cervical spinal cord on MRI should be considered for GFAP analysis as this is the typical presentation of AOAD. Abnormal behaviour and cognitive disorders including deterioration of memory were rare symptoms but could be an obstacle to diagnosing Alexander disease.
authors.affiliation: Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan. toyoshid@koto.kpu-m.ac.jp
authors.forename: T
authors.initials: T
authors.lastname: Yoshida
authors.forename: H
authors.initials: H
authors.lastname: Sasayama
authors.forename: I
authors.initials: I
authors.lastname: Mizuta
authors.forename: Y
authors.initials: Y
authors.lastname: Okamoto
authors.forename: M
authors.initials: M
authors.lastname: Yoshida
authors.forename: Y
authors.initials: Y
authors.lastname: Riku
authors.forename: Y
authors.initials: Y
authors.lastname: Hayashi
authors.forename: T
authors.initials: T
authors.lastname: Yonezu
authors.forename: Y
authors.initials: Y
authors.lastname: Takata
authors.forename: K
authors.initials: K
authors.lastname: Ohnari
authors.forename: S
authors.initials: S
authors.lastname: Okuda
authors.forename: I
authors.initials: I
authors.lastname: Aiba
authors.forename: M
authors.initials: M
authors.lastname: Nakagawa
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D038261:Alexander Disease / Q000175:diagnosis / Q000235:genetics*; D001933:Brain Stem / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics*; D006801:Humans; D007564:Japan; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009460:Neurologic Examination / Q000379:methods; D013116:Spinal Cord / Q000473:pathology
chemical_list: D005904:Glial Fibrillary Acidic Protein