title: Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.
abstract: Periaxin (PRX) plays a significant role in the myelination of the peripheral nerve. To date, seven non-sense or frameshift PRX mutations have been reported in six pedigrees with Dejerine-Sottas neuropathy or severe Charcot-Marie-Tooth neuropathy (CMT). We detected a PRX mutation in three patients in the screening of 66 Japanese demyelinating CMT patients who were negative for the gene mutation causing dominant or X-linked demyelinating CMT. Three unrelated patients were homozygous for a novel R1070X mutation and presented early-onset but slowly progressive distal motor and sensory neuropathies. Mutations lacking the carboxyl-terminal acidic domain may show loss-of-function effects and cause severe demyelinating CMT.
authors.affiliation: Department of Pediatrics, Yamagata University School of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan.
authors.forename: Kazuki
authors.initials: K
authors.lastname: Kijima
authors.affiliation: Department of Pediatrics, Yamagata University School of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan.
authors.forename: Chikahiko
authors.initials: C
authors.lastname: Numakura
authors.affiliation: Department of Pediatrics, Yamagata University School of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan.
authors.forename: Emi
authors.initials: E
authors.lastname: Shirahata
authors.affiliation: Department of Pediatrics, Akita University School of Medicine, Akita, Japan.
authors.forename: Yukio
authors.initials: Y
authors.lastname: Sawaishi
authors.affiliation: Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.
authors.forename: Mitsuteru
authors.initials: M
authors.lastname: Shimohata
authors.affiliation: Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.
authors.forename: Shuichi
authors.initials: S
authors.lastname: Igarashi
authors.affiliation: Department of Neurology, Toyooka Hospital, Hyogo, Japan.
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Tanaka
authors.affiliation: Department of Pediatrics, Yamagata University School of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan. hayasaka@med.id.yamagata-u.ac.jp.
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Hayasaka
mesh_terms: D000328:Adult; D017668:Age of Onset; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D041321:Chromosomes, Human, X; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D016368:Frameshift Mutation; D005799:Genes, Dominant; D008040:Genetic Linkage; D006720:Homozygote; D006801:Humans; D007564:Japan; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D017434:Protein Structure, Tertiary; D013997:Time Factors
chemical_list: D018389:Codon, Nonsense; D008565:Membrane Proteins; C086745:periaxin