シマザキ　ハルオ   SHIMAZAKI Haruo   嶋崎　晴雄    所属   埼玉医科大学  保健医療学部 共通教育部門    職種   教授
論文種別	学術雑誌(原著)
言語種別	英語
査読の有無	査読あり
表題	Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation
掲載誌名	正式名：JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY ISSNコード：00223050
出版社	BMJ PUBLISHING GROUP
巻・号・頁	85(9),1024-1028頁
著者・共著者	Haruo Shimazaki,Junko Honda,Tametou Naoi,Michito Namekawa,Imaharu Nakano,Masahide Yazaki,Katsuya Nakamura,Kunihiro Yoshida,Shu-ichi Ikeda,Hiroyuki Ishiura,Yoko Fukuda,Yuji Takahashi,Jun Goto,Shoji Tsuji,Yoshihisa Takiyama
発行年月	2014/09
概要	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 parents who are first cousins. Neurological examination and gene analysis were conducted in the two patients and two normal family members. We undertook genome-wide linkage analysis employing single nucleotide polymorphism arrays using the two patients' DNAs and exome sequencing using one patient's sample.Results We detected a homozygous missense mutation (c.4189T>G, p.F1397V) in the lysosomal trafficking regulator (LYST) gene, which is described as the causative gene for Chediak-Higashi syndrome (CHS). CHS is a rare autosomal-recessive syndrome characterised by hypopigmentation, severe immune deficiency, a bleeding tendency and progressive neurological dysfunction. This mutation was co-segregated with the disease in the family and was located at well-conserved amino acid. Th
DOI	10.1136/jnnp-2013-306981
PMID	24521565