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家族性舞蹈病和肌阵挛性癫痫。

Familial chorea and myoclonus epilepsy.

作者信息

Takahata N, Ito K, Yoshimura Y, Nishihori K, Suzuki H

出版信息

Neurology. 1978 Sep;28(9 Pt 1):913-9. doi: 10.1212/wnl.28.9.913.

DOI:10.1212/wnl.28.9.913
PMID:99688
Abstract

A familial disorder was characterized by chorea, ataxia, myoclonus, convulsions, dementia, and mental retardation. In five cases, the main lesion affected cerebellar dentate nuclei, with nerve cell loss, gliosis, chromatolysis, and grumose degeneration. Fibrous glial cell proliferation was detected in the globus pallidus.

摘要

一种家族性疾病的特征为舞蹈症、共济失调、肌阵挛、惊厥、痴呆和智力发育迟缓。在5例病例中,主要病变累及小脑齿状核,出现神经细胞丢失、神经胶质增生、染色质溶解和颗粒样变性。在苍白球中检测到纤维性神经胶质细胞增生。

相似文献

1
Familial chorea and myoclonus epilepsy.家族性舞蹈病和肌阵挛性癫痫。
Neurology. 1978 Sep;28(9 Pt 1):913-9. doi: 10.1212/wnl.28.9.913.
2
[Study on two autopsied cases of degenerative type of myoclonus epilepsy with choreo-athetoid movement: Proposal of hereditary dentate and pallidal system atrophy (author's transl)].
Seishin Shinkeigaku Zasshi. 1977;79(4):193-204.
3
[Hereditary dentatorubropallidoluysian atrophy--clinical variants in a family and degeneration of cerebral white matter in a proband].[遗传性齿状核红核苍白球路易体萎缩——一个家族中的临床变异型及一名先证者的脑白质变性]
No To Shinkei. 1992 Mar;44(3):279-84.
4
Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy.
Neurology. 1982 Aug;32(8):798-807. doi: 10.1212/wnl.32.8.798.
5
Progressive myoclonus epilepsy with focal brainstem degeneration and paternal inheritance. An autopsy report of 4 cases from 2 pedigrees.伴有局灶性脑干变性和父系遗传的进行性肌阵挛癫痫。来自2个家系的4例尸检报告。
Clin Neuropathol. 1996 Mar-Apr;15(2):106-12.
6
[Dentatorubropallidoluysian atrophy (DRPLA): comparative pathological study on clinical groups classified into juvenile, early adult and late adult types].
No To Shinkei. 1992 Feb;44(2):111-6.
7
[Hereditary dentatorubro-pallidoluysian atrophy (DRPLA): clinical studies on 45 cases].[遗传性齿状核红核苍白球路易体萎缩症(DRPLA):45例临床研究]
Nihon Rinsho. 1993 Nov;51(11):3016-23.
8
Ataxia, chorea, seizures, and dementia. Pathologic features of a newly defined familial disorder.共济失调、舞蹈症、癫痫发作和痴呆。一种新定义的家族性疾病的病理特征。
Arch Neurol. 1989 Jul;46(7):774-9. doi: 10.1001/archneur.1989.00520430068020.
9
Ramsay Hunt syndrome in dentatorubral-pallidoluysian atrophy.
Pediatr Neurol. 1985 Sep-Oct;1(5):298-301. doi: 10.1016/0887-8994(85)90032-3.
10
FAME 3: a novel form of progressive myoclonus and epilepsy.FAME 3:一种新型进行性肌阵挛和癫痫形式。
Neurology. 2007 Apr 24;68(17):1382-9. doi: 10.1212/01.wnl.0000260063.46425.7e.

引用本文的文献

1
Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution.首次在亚洲描述的九种遗传性运动障碍:其历史与演变
J Mov Disord. 2023 Sep;16(3):231-247. doi: 10.14802/jmd.23065. Epub 2023 Jun 13.
2
Molecular pathology of dentatorubral-pallidoluysian atrophy.齿状核红核苍白球路易体萎缩的分子病理学
Philos Trans R Soc Lond B Biol Sci. 1999 Jun 29;354(1386):1069-74. doi: 10.1098/rstb.1999.0460.
3
Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability.
齿状核红核苍白球路易体萎缩症患者大脑中CAG重复序列扩增的体细胞镶嵌现象:有丝分裂不稳定性的细胞群体依赖性动态变化
Am J Hum Genet. 1996 Jun;58(6):1212-22.
4
Anticipation in hereditary dentatorubral-pallidoluysian atrophy.遗传性齿状核红核苍白球路易体萎缩中的早现现象。
Hum Genet. 1994 Jun;93(6):699-702. doi: 10.1007/BF00201575.
5
Mapping of the gene for Machado-Joseph disease within a 3.6-cM interval flanked by D14S291/D14S280 and D14S81, on the basis of studies of linkage and linkage disequilibrium in 24 Japanese families.基于对24个日本家庭的连锁分析和连锁不平衡研究,将马查多-约瑟夫病基因定位在由D14S291/D14S280和D14S81界定的3.6厘摩区间内。
Am J Hum Genet. 1995 Jan;56(1):231-42.
6
Dentato-rubro-pallido-luysian atrophy: a clinico-pathological study.齿状核-红核-苍白球-路易体萎缩:一项临床病理研究。
J Neurol Neurosurg Psychiatry. 1984 Dec;47(12):1288-98. doi: 10.1136/jnnp.47.12.1288.
7
[Familial striatal degeneration (author's transl)].
Arch Psychiatr Nervenkr (1970). 1979;227(3):261-9. doi: 10.1007/BF00367395.