Article
Brain magnetic resonance imaging findings and auditory brainstem response in a child with spastic paraplegia 2 due to a PLP1 splice site mutation.
Brain & development - 1 Jan 2015
Kubota Kazuo, Saito Yoshiaki, Ohba Chihiro, Saitsu Hirotomo, Fukuyama Tetsuhiro, Ishiyama Akihiko, Saito Takashi, Komaki Hirofumi, Nakagawa Eiji, Sugai Kenji, Sasaki Masayuki, Matsumoto Naomichi
Abstract excerpt
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...
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