神经元蜡样脂褐质沉积症的分类与自然病史。
Classification and natural history of the neuronal ceroid lipofuscinoses.
作者信息
Mink Jonathan W, Augustine Erika F, Adams Heather R, Marshall Frederick J, Kwon Jennifer M
机构信息
Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA.
出版信息
J Child Neurol. 2013 Sep;28(9):1101-5. doi: 10.1177/0883073813494268. Epub 2013 Jul 9.
Abstract
The neuronal ceroid lipofuscinoses represent a group of disorders characterized by neurodegeneration and intracellular accumulation of an auto-fluorescent lipopigment (ceroid lipofuscin). Together, they represent the most prevalent class of childhood neurodegenerative disease. The neuronal ceroid lipofuscinoses encompass several distinct biological entities that vary in age of onset, specific neurologic phenotype, and rate of progression. In this review, we describe 9 major forms and present a classification scheme. Understanding the age of onset, clinical features, and natural history can inform rational diagnostics. Better knowledge of the natural histories of these disorders is necessary to shed light on the underlying pathobiology and to develop new therapeutics.
摘要
神经元蜡样脂褐质沉积症是一组以神经退行性变和自身荧光脂色素（蜡样脂褐质）在细胞内蓄积为特征的疾病。它们共同构成了儿童期最常见的神经退行性疾病类型。神经元蜡样脂褐质沉积症包含几个不同的生物学实体，其发病年龄、特定神经表型和进展速度各不相同。在本综述中，我们描述了9种主要类型并提出了一种分类方案。了解发病年龄、临床特征和自然病程有助于进行合理诊断。更好地了解这些疾病的自然病程对于阐明潜在的病理生物学机制和开发新的治疗方法是必要的。
相似文献
1
Classification and natural history of the neuronal ceroid lipofuscinoses.神经元蜡样脂褐质沉积症的分类与自然病史。
J Child Neurol. 2013 Sep;28(9):1101-5. doi: 10.1177/0883073813494268. Epub 2013 Jul 9.
2
The neuronal ceroid-lipofuscinoses (Batten disease): a new class of lysosomal storage diseases.神经元蜡样脂褐质沉积症（巴顿病）：一类新型的溶酶体贮积病。
J Inherit Metab Dis. 1999 Jun;22(4):535-44. doi: 10.1023/a:1005564509027.
3
The neuronal ceroid-lipofuscinoses (Batten disease): comparative aspects.神经元蜡样脂褐质沉积症（巴滕病）：比较研究方面
Neuropathol Appl Neurobiol. 1995 Feb;21(1):50-60. doi: 10.1111/j.1365-2990.1995.tb01028.x.
4
The neuronal ceroid-lipofuscinoses: a historical introduction.神经元蜡样脂褐质沉积症：历史介绍
Biochim Biophys Acta. 2013 Nov;1832(11):1795-800. doi: 10.1016/j.bbadis.2012.08.012. Epub 2012 Aug 29.
5
Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses.神经元蜡样脂褐质沉积症的遗传基础与表型相关性
Biochim Biophys Acta. 2013 Nov;1832(11):1827-30. doi: 10.1016/j.bbadis.2013.03.017. Epub 2013 Mar 28.
6
Bioinformatic perspectives in the neuronal ceroid lipofuscinoses.神经元蜡样脂褐质沉积症的生物信息学视角
Biochim Biophys Acta. 2013 Nov;1832(11):1831-41. doi: 10.1016/j.bbadis.2012.12.010. Epub 2012 Dec 26.
7
Neuronal ceroid lipofuscinoses: classification and diagnosis.神经元蜡样脂褐质沉积症：分类与诊断
Adv Genet. 2001;45:1-34. doi: 10.1016/s0065-2660(01)45002-4.
8
NCL diseases - clinical perspectives.神经蜡样脂褐质沉积症相关疾病——临床视角
Biochim Biophys Acta. 2013 Nov;1832(11):1801-6. doi: 10.1016/j.bbadis.2013.04.008. Epub 2013 Apr 17.
9
Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16.巴滕病（施皮尔曼-沃格特病，青少年型神经元蜡样脂褐质沉积症）基因（CLN3）定位于人类第16号染色体。
Genomics. 1990 Oct;8(2):387-90. doi: 10.1016/0888-7543(90)90297-8.
10
The neuronal ceroid-lipofuscinoses.神经元蜡样脂褐质沉积症
J Neuropathol Exp Neurol. 2003 Jan;62(1):1-13. doi: 10.1093/jnen/62.1.1.
引用本文的文献
1
The Wechsler intelligence scale for children, fourth and fifth editions perform comparably in children with Batten disease.韦氏儿童智力量表第四版和第五版在患有巴顿病的儿童中表现相当。
Orphanet J Rare Dis. 2025 Aug 7;20(1):413. doi: 10.1186/s13023-025-03923-w.
2
Case Report: The window that closed too soon: lessons from a late CLN2 diagnosis and death of a 9-year-old boy.病例报告：过早关闭的窗口：一名9岁男孩晚发性CLN2病诊断及死亡带来的教训
Front Genet. 2025 Jul 4;16:1622185. doi: 10.3389/fgene.2025.1622185. eCollection 2025.
3
Downregulation of AKT-mediated p27 phosphorylation with shift to sphingomyelin synthesis in CLN3 disease.CLN3病中AKT介导的p27磷酸化下调并转向鞘磷脂合成
IBRO Neurosci Rep. 2025 Jun 27;19:223-234. doi: 10.1016/j.ibneur.2025.06.005. eCollection 2025 Dec.
4
Therapeutic antisense oligonucleotide mitigates retinal dysfunction in a pig model of CLN3 Batten disease.治疗性反义寡核苷酸可减轻CLN3型巴滕病猪模型中的视网膜功能障碍。
bioRxiv. 2025 May 31:2025.05.30.656864. doi: 10.1101/2025.05.30.656864.
5
Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom.CLN2和CLN3型贝敦氏病对英国各家庭影响的证据。
Orphanet J Rare Dis. 2025 May 12;20(1):223. doi: 10.1186/s13023-025-03747-8.
6
The Wechsler Intelligence Scale for Children, fourth and fifth editions perform comparably in children with Batten Disease.韦氏儿童智力量表第四版和第五版在患有巴顿病的儿童中表现相当。
Res Sq. 2025 Feb 27:rs.3.rs-5838333. doi: 10.21203/rs.3.rs-5838333/v1.
7
Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinoses.口服海藻糖治疗神经元蜡样脂褐质沉积症患者的开放标签评估
J Neurol. 2025 Jan 7;272(1):94. doi: 10.1007/s00415-024-12790-7.
8
A Rare Case of Neuronal Ceroid Lipofuscinosis-Type 1 (NCL-1) with Vitamin D-Dependent Rickets-Type 1 (VDDR-1), Complex 1 Mitochondrial Deficiency, and Mixed Variant-Checkerboard and Phylloid Type of Pigmentary Mosaicism.一例罕见的1型神经元蜡样脂褐质沉积症（NCL-1）合并1型维生素D依赖性佝偻病（VDDR-1）、线粒体复合物I缺陷以及混合型变异型棋盘状和叶状色素镶嵌症。
J Pediatr Genet. 2024 May 30;13(4):291-299. doi: 10.1055/s-0044-1787196. eCollection 2024 Dec.
9
Protein sequence analysis in the context of drug repurposing.药物再利用背景下的蛋白质序列分析。
BMC Med Inform Decis Mak. 2024 May 13;24(1):122. doi: 10.1186/s12911-024-02531-1.
10
Sjögren: unique surname, two men, four syndromes and one disease.舍格伦：独特的姓氏，两个男人，四种综合征和一种疾病。
Arq Neuropsiquiatr. 2024 Apr;82(4):1-4. doi: 10.1055/s-0044-1786022. Epub 2024 Apr 23.
本文引用的文献
1
Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates.罕见病临床研究方法学：通过创建患者登记系统和与患者权益维护者合作，开发青少年神经元蜡样脂褐质沉积症（JNCL）研究计划
Contemp Clin Trials. 2013 Jul;35(2):48-54. doi: 10.1016/j.cct.2013.04.004. Epub 2013 Apr 26.
2
Do females with juvenile ceroid lipofuscinosis (Batten disease) have a more severe disease course? The Danish experience.女性幼年型类脂褐素沉积症（Batten 病）患者的疾病进程是否更严重？丹麦的经验。
Eur J Paediatr Neurol. 2013 May;17(3):265-8. doi: 10.1016/j.ejpn.2012.10.011. Epub 2012 Nov 21.
3
New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses.神经元蜡样质脂褐质沉积症的新命名和分类方案。
Neurology. 2012 Jul 10;79(2):183-91. doi: 10.1212/WNL.0b013e31825f0547.
4
Females experience a more severe disease course in Batten disease.女性在脑腱黄瘤病中经历更严重的疾病过程。
J Inherit Metab Dis. 2012 May;35(3):549-55. doi: 10.1007/s10545-011-9421-6. Epub 2011 Dec 14.
5
Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease).量化青少年神经元蜡样脂褐质沉积症（Batten 病）的身体衰退。
Neurology. 2011 Nov 15;77(20):1801-7. doi: 10.1212/WNL.0b013e318237f649. Epub 2011 Oct 19.
6
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.Kufs 病，即神经元蜡样脂褐质沉积症的主要成人型，由 CLN6 基因突变引起。
Am J Hum Genet. 2011 May 13;88(5):566-73. doi: 10.1016/j.ajhg.2011.04.004. Epub 2011 May 5.
7
Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease).心脏受累的少年神经元蜡样脂褐质沉积症（Batten 病）。
Neurology. 2011 Apr 5;76(14):1245-51. doi: 10.1212/WNL.0b013e31821435bd.
8
Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease).基因型不能预测少年神经元蜡样脂褐质沉积症（Batten 病）行为表型的严重程度。
Dev Med Child Neurol. 2010 Jul;52(7):637-43. doi: 10.1111/j.1469-8749.2010.03628.x. Epub 2010 Feb 19.
9
CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.CLN5 突变在非芬兰裔的青少年和迟发性发病的 NCL 患者中较为常见。
Neurology. 2010 Feb 16;74(7):565-71. doi: 10.1212/WNL.0b013e3181cff70d.
10
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.CLN7/MFSD8基因的突变是变异型晚发性婴儿神经元蜡样脂褐质沉积症的常见病因。
Brain. 2009 Mar;132(Pt 3):810-9. doi: 10.1093/brain/awn366. Epub 2009 Feb 5.
Zotero 插件