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CEREBELLAR ATROPHY ASSOCIATED WITH ÉTAT MARBRÉ OF THE BASAL GANGLIA.与基底节大理石样状态相关的小脑萎缩
J Neurol Psychiatry. 1940 Oct;3(4):311-8. doi: 10.1136/jnnp.3.4.311.
2
Cerebellar Purkinje cells are reduced in a subpopulation of autistic brains: a stereological experiment using calbindin-D28k.自闭症患者大脑的一个亚群中,小脑浦肯野细胞数量减少:一项使用钙结合蛋白-D28k的体视学实验。
Cerebellum. 2008;7(3):406-16. doi: 10.1007/s12311-008-0043-y.
3
Increased GAD67 mRNA expression in cerebellar interneurons in autism: implications for Purkinje cell dysfunction.自闭症患者小脑中间神经元中GAD67 mRNA表达增加:对浦肯野细胞功能障碍的影响。
J Neurosci Res. 2008 Feb 15;86(3):525-30. doi: 10.1002/jnr.21520.
4
Decreased GAD67 mRNA levels in cerebellar Purkinje cells in autism: pathophysiological implications.自闭症患者小脑浦肯野细胞中GAD67 mRNA水平降低:病理生理学意义。
Acta Neuropathol. 2007 May;113(5):559-68. doi: 10.1007/s00401-006-0176-3. Epub 2007 Jan 18.
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[3H]-flunitrazepam-labeled benzodiazepine binding sites in the hippocampal formation in autism: a multiple concentration autoradiographic study.自闭症患者海马结构中[3H]-氟硝西泮标记的苯二氮䓬结合位点:多浓度放射自显影研究
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Investigation of autism and GABA receptor subunit genes in multiple ethnic groups.多民族群体中自闭症与GABA受体亚基基因的研究。
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Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.孤独症中GABA受体亚基基因显著关联及基因-基因相互作用的鉴定。
Am J Hum Genet. 2005 Sep;77(3):377-88. doi: 10.1086/433195. Epub 2005 Jul 15.
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Neuropathological findings in autism.自闭症的神经病理学发现。
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The toppler mouse: a novel mutant exhibiting loss of Purkinje cells.倾倒小鼠:一种表现出浦肯野细胞缺失的新型突变体。
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10
Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes.利用表型亚型将孤独症谱系障碍精细定位到15号染色体q11-q13区域。
Am J Hum Genet. 2003 Mar;72(3):539-48. doi: 10.1086/367846. Epub 2003 Feb 3.

自闭症中小脑篮状细胞和星状细胞的密度:浦肯野细胞发育后期丢失的证据。

Density of cerebellar basket and stellate cells in autism: evidence for a late developmental loss of Purkinje cells.

作者信息

Whitney Elizabeth R, Kemper Thomas L, Rosene Douglas L, Bauman Margaret L, Blatt Gene J

机构信息

Department of Anatomy and Neurobiology, Boston University School of Medicine, Boston, MA 02218-2526, USA.

出版信息

J Neurosci Res. 2009 Aug 1;87(10):2245-54. doi: 10.1002/jnr.22056.

DOI:10.1002/jnr.22056
PMID:19301429
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2760265/
Abstract

Alterations in the cerebellum have been described as a neuropathological feature of autism. Although numerous studies have focused on the Purkinje cell (PC), the projection neuron of the cerebellar cortex, PC function is critically dependent on their innervation by the GABAergic basket cells (BCs) and stellate cells (SCs) in the cerebellar molecular layer. The present study was designed to determine whether there are differences in the packing density of these inhibitory interneurons or whether the ratio of these interneurons to PCs differs in autistic and age-matched control brains. The GABAergic interneurons were identified by using immunohistochemistry for parvalbumin (PV) in serial sections from the posterior cerebellar lobe of six autistic and four control brains and counted using stereological principles. Prior PC counts in the same area on adjacent sections (Whitney et al., 2008) were available and were used to calculate the number of BCs and SCs per PC. In this sample of brains, no statistically significant difference was detected between the autistic and the control groups in the density of BCs or SCs (P = 0.44 and P = 0.84, respectively) or in the number of BCs or SCs per PC (P = 0.47 and P = 0.44, respectively). The preservation of BCs and SCs, in the presence of the reduced PC numbers as found in at least two, and possibly three, of these six autistic cases (Whitney et al., 2008) suggests that PCs were generated, migrated to their proper location in the PC layer, and subsequently died in the autistic cases that showed a reduction in PCs.

摘要

小脑的改变已被描述为自闭症的一种神经病理学特征。尽管众多研究聚焦于小脑皮质的投射神经元浦肯野细胞(PC),但PC的功能严重依赖于小脑分子层中γ-氨基丁酸能篮状细胞(BCs)和星状细胞(SCs)对其的神经支配。本研究旨在确定这些抑制性中间神经元的堆积密度在自闭症患者与年龄匹配的对照大脑中是否存在差异,或者这些中间神经元与PC的比例是否不同。通过对6例自闭症患者和4例对照大脑的小脑后叶连续切片进行小白蛋白(PV)免疫组织化学染色来识别γ-氨基丁酸能中间神经元,并运用体视学原理进行计数。之前在相邻切片的相同区域对PC进行的计数(Whitney等人,2008年)是可用的,并用于计算每个PC的BCs和SCs数量。在这个大脑样本中,自闭症组与对照组在BCs或SCs的密度(分别为P = 0.44和P = 0.84)或每个PC的BCs或SCs数量(分别为P = 0.47和P = 0.44)方面均未检测到统计学上的显著差异。在这6例自闭症患者中,至少有2例,可能有3例存在PC数量减少的情况下,BCs和SCs却得以保留,这表明在显示PC数量减少的自闭症病例中,PCs已经生成,迁移到PC层的适当位置,随后死亡。