title: Histopathological features of a patient with Charcot-Marie-Tooth disease type 2U/AD-CMTax-MARS.
abstract: Charcot-Marie-Tooth (CMT) disease is a complex of peripheral nervous system disorders. CMT type 2U (CMT2U) is an autosomal dominant (AD) disease caused by mutations in the MARS gene encoding methionyl-tRNA synthetase; this disease has thus been newly called AD-CMTax-MARS. A few families with mutations in the MARS gene have been reported, without detailed histopathological findings. We describe a 70-year-old woman who had bilateral dysesthesia of the soles since the age of 66 years. Sural nerve biopsy showed a decrease in the density of large myelinated nerve fibers. Increased clusters of regenerating myelinated nerve fibers were noted. Electron microscopic analyses revealed degeneration of unmyelinated nerves. There was no vasculitis or inflammatory cell infiltration. Genetic analysis identified a heterozygous p.P800T mutation, a reported mutation in the MARS gene. We report the detailed histopathological findings in a patient with CMT2U/AD-CMTax-MARS. The findings are similar to those found in CMT2D caused by mutations in the GARS gene, encoding glycyl-tRNA synthetase.
authors.affiliation: Department of Neurology, Sakai Hospital Kindai University Faculty of Medicine, Sakai, Japan.|Department of Neurology, Kindai University Faculty of Medicine, Osakasayama, Japan.
authors.forename: Makito
authors.initials: M
authors.lastname: Hirano
authors.affiliation: Department of Neurology, National Hospital Organization Minami-Kyoto Hospital, Joyo, Japan.
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Oka
authors.affiliation: Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
authors.forename: Akihiro
authors.initials: A
authors.lastname: Hashiguchi
authors.affiliation: Department of Neurology, Sakai Hospital Kindai University Faculty of Medicine, Sakai, Japan.|Department of Neurology, Kindai University Faculty of Medicine, Osakasayama, Japan.
authors.forename: Shuichi
authors.initials: S
authors.lastname: Ueno
authors.affiliation: Department of Neurology, Sakai Hospital Kindai University Faculty of Medicine, Sakai, Japan.
authors.forename: Hikaru
authors.initials: H
authors.lastname: Sakamoto
authors.affiliation: Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Takashima
authors.affiliation: Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
authors.forename: Yujiro
authors.initials: Y
authors.lastname: Higuchi
authors.affiliation: Department of Neurology, Kindai University Faculty of Medicine, Osakasayama, Japan.
authors.forename: Susumu
authors.initials: S
authors.lastname: Kusunoki
authors.affiliation: Department of Neurology, Sakai Hospital Kindai University Faculty of Medicine, Sakai, Japan.
authors.forename: Yusaku
authors.initials: Y
authors.lastname: Nakamura
mesh_terms: D000368:Aged; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008718:Methionine-tRNA Ligase / Q000235:genetics; D008854:Microscopy, Electron; D009154:Mutation / Q000235:genetics*; D009431:Neural Conduction / Q000235:genetics; D013497:Sural Nerve / Q000503:physiopathology / Q000648:ultrastructure
chemical_list: D008718:Methionine-tRNA Ligase
keywords: AARS; CMT2; aminoacyl-tRNA synthetases; sensory-dominant CMT