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Article

Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.

Journal of neurology, neurosurgery, and psychiatry - 1 Sept 2014

Shimazaki Haruo, Honda Junko, Naoi Tametou, Namekawa Michito, Nakano Imaharu, Yazaki Masahide, Nakamura Katsuya, Yoshida Kunihiro, Ikeda Shu-ichi, Ishiura Hiroyuki, Fukuda Yoko, Takahashi Yuji, Goto Jun, Tsuji Shoji, Takiyama Yoshihisa

Abstract excerpt

BACKGROUND: Autosomal-recessive hereditary spastic paraplegias (AR-HSP) consist of a genetically diverse group of neurodegenerative diseases characterised by pyramidal tracts dysfunction. The causative genes for many types of AR-HSP remain elusive. We tried to identify the gene mutation for AR-HSP with cerebellar ataxia and neuropathy. METHODS: This study included two patients in a Japanese family with their...

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Identifiers

PMID: 24521565
DOI: 10.1136/jnnp-2013-306981

Genes

LYST

Variants

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