Partial PLP1 deletion causing X-linked dominant spastic paraplegia type 2.

@article{Matsufuji2013PartialPD,
  title={Partial PLP1 deletion causing X-linked dominant spastic paraplegia type 2.},
  author={Mayumi Matsufuji and Hitoshi Osaka and Leo Gotoh and Hiroko Shimbo and Sachio Takashima and Ken Inoue},
  journal={Pediatric neurology},
  year={2013},
  volume={49 6},
  pages={477-81}
}
BACKGROUND Proteolipid protein 1 gene (PLP1) mutations result in a continuum of neurological findings characterized by X-linked hypomyelinating leukodystrophies of the central nervous system, from mild spastic paraplegia type 2 to severe Pelizaeus-Merzbacher disease. PATIENTS We report spastic paraplegia type 2 in three individuals in one family. A 29-year-old man developed progressive spastic quadriplegia from early childhood with dysarthria, ataxia, dysphagia, and intellectual delay, but he… CONTINUE READING