SPASTIC ATAXIC PHENOTYPE OF FATTY ACID 2-HYDROXYLASE ASSOCIATED NEURODEGENERATION: A CASE SERIES FROM INDIA

被引:0
|
作者
Holla, V. V. [1 ]
Sriram, N. [1 ]
Kumari, R. [2 ]
Kamble, N. [1 ]
Yadav, R. [1 ]
Muthusamy, B. [2 ]
Pal, P. K. [1 ]
机构
[1] Natl Inst Mental Hlth & Neurosci, Neurol, Bengaluru, India
[2] Inst Bioinformat, Bengaluru, India
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
P 203
引用
收藏
页码:71 / 72
页数:2
相关论文
共 50 条
  • [1] Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia
    Edvardson, Simon
    Hama, Hiroko
    Shaag, Avraham
    Gomori, John Moshe
    Berger, Itai
    Soffer, Dov
    Korman, Stanley H.
    Taustein, Ilana
    Saada, Ann
    Elpeleg, Orly
    AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 83 (05) : 643 - 648
  • [2] FATTY ACID 2-HYDROXYLASE DEFICIENT MICE: AN ANIMAL MODEL FOR A NEW LEUKODYSTROPHY WITH SPASTIC PARAPARESIS
    Eckhardt, M.
    Meixner, M.
    Meier, H.
    Gieselmann, V
    Hartmann, D.
    GLIA, 2009, 57 (13) : S109 - S109
  • [3] Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration
    Erdal, Aysenur Engin
    Yurek, Burak
    Koylu, Oya Kireker
    Ceylan, Ahmet Cevdet
    Kurt, Ayseguel Nese Citak
    Kasapkara, Cigdem Seher
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2024, 37 (03): : 271 - 275
  • [4] Stereospecificity of fatty acid 2-hydroxylase and differential functions of 2-hydroxy fatty acid enantiomers
    Guo, Lin
    Zhang, Xu
    Zhou, Dequan
    Okunade, Adewole L.
    Su, Xiong
    JOURNAL OF LIPID RESEARCH, 2012, 53 (07) : 1327 - 1335
  • [5] Hereditary Spastic Paraplegia Type 35 with a Novel Mutation in Fatty Acid 2-Hydroxylase Gene and Literature Review of the Clinical Features
    Incecik, Faruk
    Besen, Seyda
    Bozdogan, Sevcan Tug
    ANNALS OF INDIAN ACADEMY OF NEUROLOGY, 2018, 21 (04) : 335 - +
  • [6] Overexpression of Fatty Acid 2-Hydroxylase is Associated with an Increased Sensitivity to Cisplatin by Ovarian Cancer and Better Prognoses
    Qi, Ting
    Wu, Dandan
    Duan, Zhipei
    Chen, Chao
    Qiu, Jiajun
    Kang, Jia
    GENETIC TESTING AND MOLECULAR BIOMARKERS, 2020, 24 (10) : 632 - 640
  • [7] 2-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase
    Dan, Phyllis
    Edvardson, Simon
    Bielawski, Jacek
    Hama, Hiroko
    Saada, Ann
    LIPIDS IN HEALTH AND DISEASE, 2011, 10
  • [8] 2-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase
    Phyllis Dan
    Simon Edvardson
    Jacek Bielawski
    Hiroko Hama
    Ann Saada
    Lipids in Health and Disease, 10
  • [9] Fatty acid 2-hydroxylase deficiency Clinical features and brain iron accumulation
    Pedroso, Jose Luiz
    Handfas, Benjamin W.
    Abrahao, Agessandro
    Kok, Fernando
    Barsottini, Orlando G. P.
    Oliveira, Acary S. Bulle
    NEUROLOGY, 2015, 84 (09) : 960 - 961
  • [10] The human FA2H gene encodes a fatty acid 2-hydroxylase
    Alderson, NL
    Rembiesa, BM
    Walla, MD
    Bielawska, A
    Bielawski, J
    Hama, H
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2004, 279 (47) : 48562 - 48568