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成人型神经蜡样质脂褐素沉积症的分子发病机制和治疗进展

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摘要 成人型神经蜡样质脂褐素沉积症faduitneumnalceroid—lipofuSCinosis,ANCLl,即Kufs病,是一组罕见的遗传性进行性神经系统变性病。平均发病年龄在30岁.可呈常染色体显性或隐性遗传。根据不同的临床表现.该病主要分为KufsA型和KufsB型.A型主要表现为伴有痴呆的进行性肌阵挛性癫痫.
出处 《内科理论与实践》 2016年第3期187-190,共4页 Journal of Internal Medicine Concepts & Practice
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  • 1Aby E, Gumps K, Roth A, et al. Mutations in palmitoyl- protein thioesterase 1 alter exocytosis and endocytosis at synapses in Drosophila larvae[J]. Fly (Austin), 2013, 7(4):267-279.
  • 2Noskov6 L, Str6necky V, HartmannovO H, et al. Muta- tions in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant aduh-onset neuronal ceroid lipofuscinosis[J]. Am J Hum Genet, 2011, 89(2): 241- 252.
  • 3Benitez BA, Alvarado D, Cai Y, et al. Exome-sequenc- ing confirms DNAJC5 mutations as cause of adult neu- ronal ceroid-lipofuscinosis [J]. PLoS One, 2011,6 (11 ): E26741.
  • 4Silva BD, Adams J, Lee SY. Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5[J]. Exp Cell Res, 2015, 338(1): 45-53.
  • 5Mancini C, Nassani S, Guo Y, et al. Adult-onset autoso- mal recessive ataxia associated with neuronal ceroid lipo- fuscinosis type 5 gene (CLN5) mutations[J]. J Neurol, 2015, 262(1): 173-178.
  • 6Thelen M, Damme M, Schweizer M, et al. Disruption of the autophagy-lysosome pathway is involved in neu- ropathology of the nclf mouse model of neuronal ceroid lipofuscinosis[J]. PLoS One, 2012, 7(4): E35493.
  • 7Sensi SL, Paoletti P, Koh JY, et al. The neurophysiology and pathology of brain zinc[J]. J Neurosci, 2011, 31(45): 16076-16085.
  • 8Arsov T, Smith KR, Damiano J, et al. Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6[J]. Am J Hum Genet, 2011, 88(5): 566-573.9-.
  • 9Hafler BP, Klein ZA, Jimmy Zhou Z, et al. Progressive retinal degeneration and accumulation of autofluorescent lipopigments in progranulin deficient mice[J]. Brain Res, 2014, 1588: 168-174.
  • 10Thurner L, Preuss KD, Fadle N, et al. Progranulin anti- bodies in autoimmune diseases[J]. J Autoimmun, 2013, 42: 29-38.

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