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

Haruo Shimazaki; Yoshihisa Takiyama; Hiroyuki Ishiura; Chika Sakai; Yuichi Matsushima; Hideyuki Hatakeyama; Junko Honda; Kumi Sakoe; Tametou Naoi; Michito Namekawa; Yoko Fukuda; Yuji Takahashi; Jun Goto; Shoji Tsuji; Yu-ichi Goto; Imaharu Nakano; and Japan Spastic Paraplegia Research Consortium (JASPAC)

doi:10.1136/jmedgenet-2012-101212

Article info

Genotype-phenotype correlations

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

Authors

Haruo Shimazaki Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan PubMed articles Google scholar articles
Yoshihisa Takiyama Department of Neurology, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Yamanashi, Japan PubMed articles Google scholar articles
Hiroyuki Ishiura Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan PubMed articles Google scholar articles
Chika Sakai Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan PubMed articles Google scholar articles
Yuichi Matsushima Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan PubMed articles Google scholar articles
Hideyuki Hatakeyama Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan PubMed articles Google scholar articles
Junko Honda Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan PubMed articles Google scholar articles
Kumi Sakoe Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan PubMed articles Google scholar articles
Tametou Naoi Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan PubMed articles Google scholar articles
Michito Namekawa Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan PubMed articles Google scholar articles
Yoko Fukuda Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan PubMed articles Google scholar articles
Yuji Takahashi Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan PubMed articles Google scholar articles
Jun Goto Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan PubMed articles Google scholar articles
Shoji Tsuji Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan PubMed articles Google scholar articles
Yu-ichi Goto Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan PubMed articles Google scholar articles
Imaharu Nakano Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan PubMed articles Google scholar articles
and Japan Spastic Paraplegia Research Consortium (JASPAC)
Google scholar articles

Correspondence to Dr Yoshihisa Takiyama, Department of Neurology, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, 1110 Shimokato, Chuo-shi, Yamanashi 409-3898, Japan; ytakiyama{at}yamanashi.ac.jp

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Citation

Shimazaki H, Takiyama Y, Ishiura H, et al

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

Journal of Medical Genetics 2012;49:777-784.

Publication history

Received August 11, 2012
Revised September 27, 2012
Accepted October 5, 2012
First published November 27, 2012.

Online issue publication

April 27, 2016

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