A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).

@article{Shimazaki2012AHM,
  title={A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).},
  author={Haruo Shimazaki and Yoshihisa Takiyama and Hiroyuki Ishiura and Chika Sakai and Yuichi Matsushima and Hideyuki Hatakeyama and Junko Honda and Kumi Sakoe and Tametou Naoi and Michito Namekawa and Yoko Fukuda and Yuji Takahashi and Jun Goto and Shoji Tsuji and Yu-ichi Goto and Imaharu Nakano},
  journal={Journal of medical genetics},
  year={2012},
  volume={49 12},
  pages={777-84}
}
BACKGROUND Autosomal recessive hereditary spastic paraplegias (AR-HSP) constitute a heterogeneous group of neurodegenerative diseases involving pyramidal tracts dysfunction. The genes responsible for many types of AR-HSPs remain unknown. We attempted to identify the gene responsible for AR-HSP with optic atrophy and neuropathy. METHODS The present study… CONTINUE READING