Art

J-GLOBAL ID：201802214151866184   Reference number：18A1700906

Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment

小脳性運動失調と認知障害を伴う複雑な遺伝性痙性対麻痺におけるALDH18A1遺伝子の新規変異

Author (10)： KOH Kishin (Univ. Yamanashi, Yamanashi, JPN) ,  ISHIURA Hiroyuki (Univ. Tokyo Hospital, Tokyo, JPN) ,  BEPPU Minako (Chiba Univ. Graduate School of Medicine, Chiba, JPN) ,  SHIMAZAKI Haruo (Jichi Medical Univ., Tochigi, JPN) ,  ICHINOSE Yuta (Univ. Yamanashi, Yamanashi, JPN) ,  MITSUI Jun (Univ. Tokyo Hospital, Tokyo, JPN) ,  KUWABARA Satoshi (Chiba Univ., Chiba, JPN) ,  TSUJI Shoji (Univ. Tokyo Hospital, Tokyo, JPN) ,  TSUJI Shoji (International Univ. Health and Welfare, Chiba, JPN) ,  TAKIYAMA Yoshihisa (Univ. Yamanashi, Yamanashi, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 63  Issue： 9  Page： 1009-1013  Publication year： Sep. 2018 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 短報  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： *Cerebellar Ataxia ,...
Semi thesaurus term： genetic variation ,...

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JST classification (3)： Diagnostics of congenital diseases, deformities.  (GD03020G) ,  Neurologic diagnosis  (GN02000H) ,  Enzyme in general  (EB09010D)

Reference (22)：

• Salinas S, Proukakis C, Crosby A, Warner TT. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol. 2008;7:1127-38.
• Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, et al. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain. 2015;138:2191-205.
• Panza E, Escamilla-Honrubia JM, Marco-Martin C, Gougeard N, De Micheke G, Morra VB, et al. ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. Brain. 2016;139:e3.
• Kircher M, Witten DM, Jain P, O’Roak BJ, Cooper GM, Shendure J, et al. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet. 2014;46:310-5.
• Stavropulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram T, et al. Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine. NPJ Genom Med. 2016;1:15012.

Terms in the title (5)： 小脳性運動失調 ,  認知障害 ,  遺伝性痙性対麻痺 ,  遺伝子 ,  変異