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Article

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

Journal of medical genetics - 1 Dec 2012

Shimazaki Haruo, Takiyama Yoshihisa, Ishiura Hiroyuki, Sakai Chika, Matsushima Yuichi, Hatakeyama Hideyuki, Honda Junko, Sakoe Kumi, Naoi Tametou, Namekawa Michito, Fukuda Yoko, Takahashi Yuji, Goto Jun, Tsuji Shoji, Goto Yu-ichi, Nakano Imaharu

Abstract excerpt

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 involved two patients in a consanguineous Japanese family....

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PMID: 23188110
DOI: 10.1136/jmedgenet-2012-101212

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