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[Infantile neuroaxonal dystrophy. Early form with preferential cerebellar involvement].

作者信息

Jellinger K, Seitelberger F, Rosenkranz W

出版信息

Acta Neuropathol. 1968 Mar 4;10(2):123-31. doi: 10.1007/BF00691306.

DOI:10.1007/BF00691306
PMID:5707963
Abstract
摘要

相似文献

1
[Infantile neuroaxonal dystrophy. Early form with preferential cerebellar involvement].
Acta Neuropathol. 1968 Mar 4;10(2):123-31. doi: 10.1007/BF00691306.
2
[Certain aspects of axial and cerebellar lesions in infantile amaurotic idiocy GM2 type].
Pathol Biol (Paris). 1970 Nov;18(21):927-34.
3
Infantile neuroaxonal dystrophy (INAD): light and electron microscopic observations of an autopsy case.
Neuropadiatrie. 1974 Feb;5(1):63-70. doi: 10.1055/s-0028-1091689.
4
[Infantile neuroaxomal dystrophy or Seitelberger's disease. Clinical, histological and ultrastructural study of 2 observations].
Acta Neuropathol. 1970;15(4):327-50. doi: 10.1007/BF00684731.
5
Genetic ablation of PLA2G6 in mice leads to cerebellar atrophy characterized by Purkinje cell loss and glial cell activation.在小鼠中基因敲除 PLA2G6 会导致小脑萎缩，其特征是浦肯野细胞丢失和神经胶质细胞激活。
PLoS One. 2011;6(10):e26991. doi: 10.1371/journal.pone.0026991. Epub 2011 Oct 28.
6
The synaptic organization of the malformed cerebellum induced by perinatal infection with the feline panleukopenia virus (PLV). II. The Purkinje cell and its afferents.围产期感染猫泛白细胞减少症病毒（PLV）所致畸形小脑的突触组织。II. 浦肯野细胞及其传入纤维。
J Neuropathol Exp Neurol. 1971 Oct;30(4):557-70. doi: 10.1097/00005072-197110000-00001.
7
The pathogenesis of parvovirus-induced cerebellar hypoplasia in the Syrian hamster, Mesocricetus auratus. Fluorescent antibody, foliation, cytoarchitectonic, Golgi and electron microscopic studies.叙利亚仓鼠（金仓鼠）中细小病毒诱导的小脑发育不全的发病机制。荧光抗体、小脑叶片、细胞构筑、高尔基染色及电子显微镜研究。
J Comp Neurol. 1976 Oct 15;169(4):481-521. doi: 10.1002/cne.901690405.
8
[Neuro-muscular biopsy in the diagnosis of infantile neuroaxonal dystrophy. Ultrastructural study of 3 cases 2 of them familial].[神经肌肉活检在婴儿型神经轴索性营养不良诊断中的应用。3例超微结构研究，其中2例为家族性]
Acta Neuropathol. 1972;21(2):109-16. doi: 10.1007/BF00687565.
9
[Clinical development of infantile neuro-axonal dystrophy in the light of the chronology of subjacent systematic atrophies].[基于潜在系统性萎缩病程的婴儿神经轴索性营养不良的临床进展]
J Neurol Sci. 1972 Apr;15(4):439-55. doi: 10.1016/0022-510x(72)90170-0.
10
[Infantile neuroaxonal dystrophy].
Cesk Patol. 1973 Aug;9(3):129-34.

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Insights into Lewy body disease from rare neurometabolic disorders.从罕见的神经代谢疾病看路易体病。
J Neural Transm (Vienna). 2021 Oct;128(10):1567-1575. doi: 10.1007/s00702-021-02355-7. Epub 2021 May 30.
2
Clinical and genetic delineation of neurodegeneration with brain iron accumulation.脑铁沉积性神经退行性变的临床与遗传学特征
J Med Genet. 2009 Feb;46(2):73-80. doi: 10.1136/jmg.2008.061929. Epub 2008 Nov 3.
3
Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations.

本文引用的文献

1
INFANTILE NEUROAXONAL DYSTROPHY.
Arch Neurol. 1965 Feb;12:155-9. doi: 10.1001/archneur.1965.00460260045005.
2
[CONTRIBUTION TO LATE INFANTILE HALLERVORDEN-SPATZ DISEASE].
Acta Neuropathol. 1963 Sep 2;3:16-28. doi: 10.1007/BF00684016.
3
AXONAL LESIONS AND WALTZING SYNDROME AFTER IDPN ADMINISTRATION IN RATS. WITH A CONCEPT--"AXOSTASIS".大鼠注射IDPN后出现的轴突损伤与华尔兹综合征。提出“轴突稳定”这一概念。
Acta Neuropathol. 1964 May 5;3:428-50. doi: 10.1007/BF00688453.
4
在由PLA2G6突变引起的婴儿神经轴索营养不良小鼠模型中，膜稳态破坏和泛素化蛋白积累。
Am J Pathol. 2008 Feb;172(2):406-16. doi: 10.2353/ajpath.2008.070823. Epub 2008 Jan 17.
4
Neuroaxonal dystrophy. A case of delayed onset and protracted course.
Acta Neuropathol. 1971;17(4):331-40. doi: 10.1007/BF00685019.
5
[Infantile neuroaxomal dystrophy or Seitelberger's disease. Clinical, histological and ultrastructural study of 2 observations].
Acta Neuropathol. 1970;15(4):327-50. doi: 10.1007/BF00684731.
6
[A contribution concerning the infantile neuro-axonal dystrophy. Comparison to Hallervorden-Spatz disease regarding histopathologic findings and clinical symptoms].[关于婴儿神经轴索性营养不良的一项研究。在组织病理学发现和临床症状方面与苍白球黑质变性的比较]
Z Neurol. 1972;201(2):160-95.
7
Neuropathology of ornithine carbamyl transferase deficiency.
Acta Neuropathol. 1985;65(3-4):261-4. doi: 10.1007/BF00687006.
8
Diagnosis of juvenile-adult form of neuroaxonal dystrophy by electron microscopy of rectum and skin biopsy.通过直肠和皮肤活检的电子显微镜检查诊断青少年-成人型神经轴索性营养不良
J Neurol Neurosurg Psychiatry. 1987 Jun;50(6):818-21. doi: 10.1136/jnnp.50.6.818.
9
Neuroaxonal dystrophy in the neonate. A case report.新生儿神经轴索性营养不良。病例报告。
Acta Neuropathol. 1979 Apr 12;46(1-2):151-4. doi: 10.1007/BF00684817.
[INFANTILE NEURO-AXONAL DEGENERATION (SEITELBERGER'S DISEASE). ANATOMICAL STUDY OF A CASE].
Rev Neurol (Paris). 1963 Aug;109:133-55.
5
AN ELECTRON MICROSCOPIC STUDY OF DYSTROPHIC AXONS IN THE GRACILE AND CUNEATE NUCLEI OF VITAMIN E-DEFICIENT RATS.维生素E缺乏大鼠薄束核和楔束核中营养不良性轴突的电子显微镜研究
J Neuropathol Exp Neurol. 1964 Jan;23:60-77. doi: 10.1097/00005072-196401000-00005.
6
Infantile neuroaxonal dystrophy.婴儿神经轴索性营养不良
J Neuropathol Exp Neurol. 1963 Apr;22:175-236. doi: 10.1097/00005072-196304000-00001.
7
[Late infantile form of the Hallervorden-Spatz disease. I. Clinical and anatomical findings].
Dtsch Z Nervenheilkd. 1957;176(1):77-103.
8
Axonal dystrophy in the gracile nucleus of man.人类薄束核中的轴索性营养不良
Acta Neuropathol. 1967 Aug 2;9(1):1-6. doi: 10.1007/BF00688153.
9
[The Hallervorden-Spatz Disease].
Nervenarzt. 1966 Nov;37(11):482-93.
10
Neuroaxonal dystrophy in congenital biliary atresia.先天性胆道闭锁中的神经轴突营养不良
J Neuropathol Exp Neurol. 1966 Jul;25(3):341-61. doi: 10.1097/00005072-196607000-00001.