title: Brain magnetic resonance imaging findings and auditory brainstem response in a child with spastic paraplegia 2 due to a PLP1 splice site mutation.
abstract: A boy with spastic paraplegia type 2 (SPG2) due to a novel splice site mutation of PLP1 presented with progressive spasticity of lower limbs, which was first observed during late infancy, when he gained the ability to walk with support. His speech was slow and he had dysarthria. The patient showed mildly delayed intellectual development. Subtotal dysmyelination in the central nervous system was revealed, which was especially prominent in structures known to be myelinated during earlier period, whereas structures that are myelinated later were better myelinated. These findings on the brain magnetic resonance imaging were unusual for subjects with PLP1 mutations. Peaks I and II of the auditory brainstem response (ABR) were normally provoked, but peaks III-V were not clearly demarcated, similarly to the findings in Pelizaeus-Merzbacher disease. These findings of brain MRI and ABR may be characteristic for a subtype of SPG2 patients.
authors.affiliation: Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Kazuo
authors.initials: K
authors.lastname: Kubota
authors.affiliation: Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan. Electronic address: saitoyo@ncnp.go.jp.
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Saito
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, Japan.
authors.forename: Chihiro
authors.initials: C
authors.lastname: Ohba
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, Japan.
authors.forename: Hirotomo
authors.initials: H
authors.lastname: Saitsu
authors.affiliation: Department of Neurology, Nagano Children's Hospital, Azumino, Japan.
authors.forename: Tetsuhiro
authors.initials: T
authors.lastname: Fukuyama
authors.affiliation: Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Akihiko
authors.initials: A
authors.lastname: Ishiyama
authors.affiliation: Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Saito
authors.affiliation: Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Komaki
authors.affiliation: Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Eiji
authors.initials: E
authors.lastname: Nakagawa
authors.affiliation: Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Sugai
authors.affiliation: Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Masayuki
authors.initials: M
authors.lastname: Sasaki
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, Japan.
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D016057:Evoked Potentials, Auditory, Brain Stem / Q000502:physiology*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D018991:Myelin Proteolipid Protein / Q000235:genetics*; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology*
chemical_list: D018991:Myelin Proteolipid Protein; C472930:PLP1 protein, human
keywords: Auditory brainstem response; Dysmyelination; PLP1; Pelizaeus–Merzbacher disease; Spastic paraplegia 2