title: Familial Adult-onset Alexander Disease: Clinical and Neuroradiological Findings of Three Cases.
abstract: The adult-onset Alexander disease (AOAD) dramatically differs from the early onset AD with respect to clinical and neuroradiological findings. Herein we report the detailed clinical and neuroradiological findings of a Turkish family with AOAD. In all three cases, magnetic resonance imaging revealed marked atrophy of the mesencephalon, bulbus, and cervical spinal cord accompanied with signal abnormalities in the same regions along with supratentorial white matter. Basal ganglia were affected in two cases. Molecular genetic analysis revealed heterozygous mutation in the 8th exon of the glial fibrillary acidic protein gene M451I (c.1245G>A), leading to the diagnosis of AOAD in all cases.
authors.affiliation: Department of Neurology, İstanbul University Cerrahpaşa School of Medicine, İstanbul, Turkey.
authors.forename: Ayşe Deniz
authors.initials: AD
authors.lastname: Elmali
authors.affiliation: Clinic of Genetics, İstanbul Training and Research Hospital, İstanbul, Turkey.
authors.forename: Ümran
authors.initials: Ü
authors.lastname: Çetinçelik
authors.affiliation: Department of Neuroradiology, İstanbul University Cerrahpaşa School of Medicine, İstanbul, Turkey.
authors.forename: Civan
authors.initials: C
authors.lastname: Işlak
authors.affiliation: Department of Neurology, İstanbul University Cerrahpaşa School of Medicine, İstanbul, Turkey.
authors.forename: Nurten
authors.initials: N
authors.lastname: Uzun Adatepe
authors.affiliation: Department of Neurology, İstanbul University Cerrahpaşa School of Medicine, İstanbul, Turkey.
authors.forename: Feray
authors.initials: F
authors.lastname: Karaali Savrun
authors.affiliation: Department of Neurology, İstanbul University Cerrahpaşa School of Medicine, İstanbul, Turkey.
authors.forename: Cengiz
authors.initials: C
authors.lastname: Yalçinkaya
keywords: Adult-onset Alexander disease; GFAP; M451I; brainstem; leukodystrophy