SPG3A型遗传性痉挛性截瘫中正常的多巴胺能黑质纹状体神经支配。
Normal dopaminergic nigrostriatal innervation in SPG3A hereditary spastic paraplegia.
作者信息
Albin Roger L, Koeppe Robert A, Rainier Shirley, Fink John K
机构信息
Geriatrics Research, Education, and Clinical Center, Ann Arbor VAHS, Ann Arbor, Michigan 48109-2200, USA.
出版信息
J Neurogenet. 2008;22(4):289-94. doi: 10.1080/01677060802337307.
Abstract
SPG3A/atlastin-1 gene mutations cause an autosomal dominant form of hereditary spastic paraplegia (SPG3A-HSP). We used positron emission tomography with [(11)C]DTBZ to assess nigrostriatal dopaminergic integrity in two unrelated adults with SPG3A-HSP due to the common SPG3A/atlastin-1 mutation, R239C. Nigrostriatal dopaminergic terminal density was normal. A difference from the human pattern of neurodegeneration is a critical limitation of this Drosophila model of SPG3A-HSP. This major difference between human SPG3A/atlastin-1 mutations and the Drosophila atl(l) phenotype has several possible explanations.
摘要
痉挛性截瘫3型（SPG3A）/atlastin-1基因突变导致常染色体显性遗传型遗传性痉挛性截瘫（SPG3A-HSP）。我们使用[（11）C]DTBZ正电子发射断层扫描来评估两名因常见的SPG3A/atlastin-1突变R239C而患SPG3A-HSP的无关成年人的黑质纹状体多巴胺能完整性。黑质纹状体多巴胺能终末密度正常。与人类神经退行性变模式的差异是这种SPG3A-HSP果蝇模型的一个关键局限性。人类SPG3A/atlastin-1突变与果蝇atl（l）表型之间的这种主要差异有几种可能的解释。
相似文献
1
Normal dopaminergic nigrostriatal innervation in SPG3A hereditary spastic paraplegia.SPG3A型遗传性痉挛性截瘫中正常的多巴胺能黑质纹状体神经支配。
J Neurogenet. 2008;22(4):289-94. doi: 10.1080/01677060802337307.
2
Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A.由SPG3A基因新突变引起的早发型常染色体显性遗传性痉挛性截瘫
Neurogenetics. 2004 Dec;5(4):239-43. doi: 10.1007/s10048-004-0191-2. Epub 2004 Oct 28.
3
Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype.在常染色体显性遗传性痉挛性截瘫家系中鉴定出四种新的SPG3A/atlastin突变，这些家系存在家族内发病年龄变异性和复杂表型。
Clin Genet. 2009 May;75(5):485-9. doi: 10.1111/j.1399-0004.2009.01184.x.
4
5
Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia.一个非裔美国家庭中SPG3A基因的新型突变与早发性遗传性痉挛性截瘫相关
Arch Neurol. 2004 Oct;61(10):1600-3. doi: 10.1001/archneur.61.10.1600.
6
SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia.对英国早发性常染色体显性遗传性痉挛性截瘫家族进行SPG3A突变筛查。
J Neurol Sci. 2003 Dec 15;216(1):43-5. doi: 10.1016/s0022-510x(03)00210-7.
7
SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism.SPG3A 相关性遗传性痉挛性截瘫伴脑葡萄糖代谢低下。
Ann Nucl Med. 2013 Apr;27(3):303-8. doi: 10.1007/s12149-012-0673-5. Epub 2012 Dec 12.
8
Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family.遗传性痉挛性截瘫：一个中国家系中SPG3A基因突变的鉴定
Hong Kong Med J. 2009 Aug;15(4):304-7.
9
Clinical and genetic characterization of hereditary spastic paraplegia type 3A in Taiwan.台湾遗传性痉挛性截瘫3A型的临床与遗传学特征
Parkinsonism Relat Disord. 2021 Jun;87:87-91. doi: 10.1016/j.parkreldis.2021.05.004. Epub 2021 May 11.
10
Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation.一种新的SPG3A新发突变导致的遗传性痉挛性截瘫和轴索性运动神经病
Brain Dev. 2010 Aug;32(7):592-4. doi: 10.1016/j.braindev.2009.08.003. Epub 2009 Sep 6.
引用本文的文献
1
Movement disorders in hereditary spastic paraplegias.遗传性痉挛性截瘫中的运动障碍。
Arq Neuropsiquiatr. 2023 Nov;81(11):1000-1007. doi: 10.1055/s-0043-1777005. Epub 2023 Nov 30.
2
Genome-Wide Analyses of Working-Memory Ability: A Review.工作记忆能力的全基因组分析：综述
Curr Behav Neurosci Rep. 2014 Dec;1(4):224-233. doi: 10.1007/s40473-014-0028-8.
3
Striatal dopaminergic functioning in patients with sporadic and hereditary spastic paraplegias with parkinsonism.纹状体多巴胺能功能在散发型和遗传性痉挛性截瘫伴帕金森病患者中的变化。
J Korean Med Sci. 2013 Nov;28(11):1661-6. doi: 10.3346/jkms.2013.28.11.1661. Epub 2013 Oct 31.
本文引用的文献
1
Loss of spastic paraplegia gene atlastin induces age-dependent death of dopaminergic neurons in Drosophila.痉挛性截瘫基因atlastin的缺失会诱导果蝇中多巴胺能神经元的年龄依赖性死亡。
Neurobiol Aging. 2008 Jan;29(1):84-94. doi: 10.1016/j.neurobiolaging.2006.09.004. Epub 2006 Oct 9.
2
Positron emission tomography of monoaminergic vesicular binding in aging and Parkinson disease.衰老与帕金森病中单胺能囊泡结合的正电子发射断层扫描
J Cereb Blood Flow Metab. 2006 Sep;26(9):1198-212. doi: 10.1038/sj.jcbfm.9600276. Epub 2006 Jan 18.
3
Disease-related phenotypes in a Drosophila model of hereditary spastic paraplegia are ameliorated by treatment with vinblastine.在遗传性痉挛性截瘫的果蝇模型中，疾病相关表型通过长春碱治疗得到改善。
J Clin Invest. 2005 Nov;115(11):3026-34. doi: 10.1172/JCI24694.
4
PET in LRRK2 mutations: comparison to sporadic Parkinson's disease and evidence for presymptomatic compensation.携带LRRK2基因突变的帕金森病患者的正电子发射断层扫描：与散发性帕金森病的比较及症状前代偿的证据
Brain. 2005 Dec;128(Pt 12):2777-85. doi: 10.1093/brain/awh607. Epub 2005 Aug 4.
5
Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin.遗传性痉挛性截瘫3A（SPG3A）蛋白atlastin的细胞定位、寡聚化及膜结合
J Biol Chem. 2003 Dec 5;278(49):49063-71. doi: 10.1074/jbc.M306702200. Epub 2003 Sep 23.
6
SPG3A: An additional family carrying a new atlastin mutation.SPG3A：一个携带新的atlastin突变的额外家系。
Neurology. 2002 Dec 24;59(12):2002-5. doi: 10.1212/01.wnl.0000036902.21438.98.
7
Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia.SPG3A基因突变导致常染色体显性遗传性痉挛性截瘫的进一步证据。
Ann Neurol. 2002 Jun;51(6):794-5. doi: 10.1002/ana.10185.
8
Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.一个新发现的GTP酶基因突变会导致常染色体显性遗传性痉挛性截瘫。
Nat Genet. 2001 Nov;29(3):326-31. doi: 10.1038/ng758.
9
Decreased striatal dopaminergic innervation in REM sleep behavior disorder.
Neurology. 2000 Nov 14;55(9):1410-2. doi: 10.1212/wnl.55.9.1410.
Zotero 插件