title: A family with IVIg-responsive Charcot-Marie-Tooth disease.
abstract: We report a family of intravenous immunoglobulin (IVIg)-responsive X-linked Charcot-Marie-Tooth disease Type 1 (CMT1X) with a novel gap junction protein 1 mutation. Two of three siblings in the family complained of subacute motor and sensory impairment, and their symptoms improved after the administration of IVIg. Additional IVIg treatment also resulted in similar improvement. The other also showed a mild improvement on IVIg. It has been suggested that an immune-mediated process is involved in the progression of neuropathy in CMT1X. The finding in our report provides evidence of susceptibility to immune-mediated demyelinating neuropathy in some form of CMT1X. Superimposed demyelinating neuropathy as well as a gradual deterioration of neuropathy over decades can be a clinical manifestation of CMT1X.
authors.affiliation: Department of Neurology, Aomori Prefectural Central Hospital, 2-1-1 Higashitsukurimichi, Aomori, Aomori 030-8553, Japan. yasuomiki@hotmail.com
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Miki
authors.forename: Masahiko
authors.initials: M
authors.lastname: Tomiyama
authors.forename: Rie
authors.initials: R
authors.lastname: Haga
authors.forename: Haruo
authors.initials: H
authors.lastname: Nishijima
authors.forename: Chieko
authors.initials: C
authors.lastname: Suzuki
authors.forename: Aiichiro
authors.initials: A
authors.lastname: Kurihara
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Sugimoto
authors.forename: Akihiro
authors.initials: A
authors.lastname: Hashiguchi
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Takashima
authors.forename: Masayuki
authors.initials: M
authors.lastname: Baba
mesh_terms: D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics / Q000503:physiopathology / Q000628:therapy*; D017630:Connexins / Q000235:genetics; D004252:DNA Mutational Analysis; D004558:Electric Stimulation; D005192:Family Health; D005260:Female; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use*; D007155:Immunologic Factors / Q000627:therapeutic use*; D008297:Male; D009154:Mutation / Q000235:genetics; D009431:Neural Conduction / Q000187:drug effects / Q000502:physiology; D010525:Peripheral Nerves / Q000503:physiopathology; D055815:Young Adult; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D016756:Immunoglobulins, Intravenous; D007155:Immunologic Factors; D000097002:Gap Junction beta-1 Protein