title: A novel PLP mutation in a Japanese patient with mild Pelizaeus-Merzbacher disease.
abstract: Pelizaeus-Merzbacher disease (PMD) is a rare dysmyelinating disorder due to mutations in the proteolipid protein (PLP) gene. PLP gene mutations are responsible for a broad spectrum of disease, from the most severe form, connatal PMD, to a less severe form, spastic paraplegia 2 (SPG2). We describe here a very mild case of PMD in a patient who presented with nystagmus in early infancy and was unable to walk until 1 year 7 months of age. Brain magnetic resonance imaging (MRI) at 1 year 7 months of age revealed white matter abnormalities typical of PMD. Genetic testing revealed a novel mutation of the PLP gene (Gly197Arg). The patient presented with only mildly ataxic gait and slurred speech at the age of 4 years. Gly197Arg is the first novel mutation located within exon 4 of the PLP gene and associated with mild PMD/SPG2 in a Japanese patient.
authors.affiliation: Department of Pediatrics and Pediatric neurology, Seirei-Mikatahara General Hospital, 3453 Mikatahara, Hamamatsu, Shizuoka 433-8558, Japan. tkmn3994@yahoo.co.jp
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Kibe
authors.forename: Jun
authors.initials: J
authors.lastname: Miyahara
authors.forename: Kenji
authors.initials: K
authors.lastname: Yokochi
authors.forename: Akiko
authors.initials: A
authors.lastname: Iwaki
mesh_terms: D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D007564:Japan; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D020371:Pelizaeus-Merzbacher Disease / Q000235:genetics*; D010641:Phenotype; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C078341:MYT1 protein, human; D014157:Transcription Factors