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磷脂酶A2G6基因突变的青年型帕金森病1例 被引量:2

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摘要 1病例资料患者男性,24岁,因“渐进性动作笨拙、四肢发僵感1年余”于2018年1月11日入住安徽中医药大学神经病学研究所附属医院。追溯病史,患者2016年4月逐渐出现穿衣、持筷等动作笨拙,行走不稳,躯干后仰,上述症状逐渐加重,同年6月至北京某三甲医院诊断为肝豆状核变性,予以硫酸锌0.05 g,3次/天;多巴丝肼0.125 g,3次/天,口服治疗,症状仍持续加重,并出现四肢僵直,行走缓慢,随后多次至安徽省某三甲医院予以二巯基丙磺酸钠等药物治疗,症状无改善。
出处 《安徽医学》 2019年第5期594-595,共2页 Anhui Medical Journal
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  • 1Morgan NV, Westaway SK, Morton JE, et al. PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron[ J]. Nat Genet, 2006, 38: 752-754.
  • 2Shareef K, Hagit F, Rivka O, et al. PLA2G6 mutation underlies infantile neuroaxonal dystrophy[ J]. Am J hum Genet, 2006, 79: 942-948.
  • 3Paisan-Ruiz C, Bhatia KP, Li A, et al. Characterization of PLA2G6 as a locus for dystonia-parkinsonism [ J ]. Ann Neurol, 2009, 65: 19-23.
  • 4Balsinde J, Balboa MA. Cellular regulation and proposed biological functions of group VIA calcium independent phospholipase A2 in activated cells [ J]. Cell Signal, 2005, 17: 1052-1062.
  • 5Shinzawa K, Sumi H, Ikawa M, et al. Neuroaxonal dystrophy caused by group VIA phospholipase A2 deficiency in mice: a model of human neurodegenerative disease [ J ]. J Neurosei, 2008, 28 : 2212-2220.
  • 6Adibhatla RM, Hatcher JF. Lipid oxidation and peroxidatiou in CNS health and disease : from molecular mechanisms to therapeutic opportunities[ J]. Antioxid Redox Signal, 2010, 12 : 125-169.
  • 7Farooqui AA, Ong WY, Horrocks LA. Biochemical aspects of neurodegeneration in human brain: involvement of neural membrane phospholipids and phospholipases A2 [J]. Neuroehem Res. 2004, 29: 1961-1977.
  • 8Crompton D, Rehal PK, MacPherson L, et al. Multiplex ligation- dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis[ J]. Mol Genet Metab, 2010, 100 : 207-212.
  • 9Ramanadham S, Hsu FF, Zhang S, et al. Apoptosis of insulin- secreting ceils induced by endoplasmic reticulum stress is amplified by overexpression of group VIA calcium-independent phospholipase A2 (iPLA2 beta) and suppressed by inhibition of iPLA2 beta[ J]. Biochemistrv. 2004.43: 918-930.
  • 10Beck G, Sugiura Y, Shinzawa K, et al. Neuroaxonal dystrophy in calcium-independent phospholipase A213 deficiency results from insufficient remodeling and degeneration of mitochondrial and presynaptie membranes[ J ]. J Neurosci, 2011,31 : 11411-11420.

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