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Brain Dev. 2009 Mar;31(3):248-51. doi: 10.1016/j.braindev.2008.08.001. Epub 2008 Sep 9.

A novel PLP mutation in a Japanese patient with mild Pelizaeus-Merzbacher disease.

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Department of Pediatrics and Pediatric neurology, Seirei-Mikatahara General Hospital, 3453 Mikatahara, Hamamatsu, Shizuoka 433-8558, Japan.


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.

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