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Machado-Joseph (Azorean) disease in a Yemenite Jewish family in Israel.

作者信息

Goldberg-Stern H, D'jaldetti R, Melamed E, Gadoth N

机构信息

Department of Neurology, Beilinson Medical Center, Petah Tiqva, Israel.

出版信息

Neurology. 1994 Jul;44(7):1298-301. doi: 10.1212/wnl.44.7.1298.

DOI:10.1212/wnl.44.7.1298
PMID:8035934
Abstract

Machado-Joseph disease (MJD), an autosomal dominant, progressive, multisystem degeneration with cerebellar ataxia as the cardinal manifestation, usually affects individuals of Portuguese ancestry from the Azorean Islands. Cases have been reported in families from Japan, India, China, Brazil, and Australia. We report the first Israeli Jewish family with MJD, originating from a remote village near Ta'izz in Yemen.

摘要

相似文献

1
Machado-Joseph (Azorean) disease in a Yemenite Jewish family in Israel.
Neurology. 1994 Jul;44(7):1298-301. doi: 10.1212/wnl.44.7.1298.
2
Yemenite-Jewish families with Machado-Joseph disease (MJD/SCA3) share a recent common ancestor.也门犹太人家族性肌萎缩侧索硬化症(MJD/SCA3)具有最近的共同祖先。
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Machado-Joseph disease: clinical, molecular, and metabolic characterization in Chinese kindreds.马查多-约瑟夫病:中国家系的临床、分子和代谢特征
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A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews.CERKL的一种常见奠基者突变是也门犹太人中伴有早期黄斑受累的常染色体隐性视网膜变性的基础。
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7
Origins of a mutation: population genetics of Machado-Joseph disease in the Azores (Portugal).一种突变的起源:亚速尔群岛(葡萄牙)马查多-约瑟夫病的群体遗传学
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Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins.
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Machado-Joseph-Azorean disease in India.
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引用本文的文献

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"I Do Not Know How You Feel and How I Feel About That": Mentalizing Impairments in Machado-Joseph Disease.“我不知道你有何感受,我对那件事的感受如何”:脑腱黄瘤营养不良症的心理理论障碍。
Cerebellum. 2024 Aug;23(4):1265-1272. doi: 10.1007/s12311-023-01536-2. Epub 2023 Feb 28.
2
Selective Procedural Memory Impairment but Preserved Declarative Memory in Spinocerebellar Ataxia Type 3.脊髓小脑性共济失调 3 型患者选择性程序性记忆损伤但陈述性记忆完好。
Cerebellum. 2020 Apr;19(2):226-234. doi: 10.1007/s12311-019-01101-w.
3
Yemenite-Jewish families with Machado-Joseph disease (MJD/SCA3) share a recent common ancestor.
也门犹太人家族性肌萎缩侧索硬化症(MJD/SCA3)具有最近的共同祖先。
Eur J Hum Genet. 2019 Nov;27(11):1731-1737. doi: 10.1038/s41431-019-0449-7. Epub 2019 Jun 12.
4
Cognitive Changes in the Spinocerebellar Ataxias Due to Expanded Polyglutamine Tracts: A Survey of the Literature.由多聚谷氨酰胺序列扩增导致的脊髓小脑共济失调的认知变化:文献综述
Brain Sci. 2017 Jul 14;7(7):83. doi: 10.3390/brainsci7070083.
5
Spinocerebellar ataxia type 3 in Israel: phenotype and genotype of a Jew Yemenite subpopulation.以色列的3型脊髓小脑共济失调:也门犹太亚群的表型和基因型
J Neurol. 2016 Nov;263(11):2207-2214. doi: 10.1007/s00415-016-8251-8. Epub 2016 Aug 8.
6
Clinical characteristics of Parkinson's disease among Jewish Ethnic groups in Israel.以色列犹太族群中帕金森病的临床特征
J Neural Transm (Vienna). 2008 Sep;115(9):1279-84. doi: 10.1007/s00702-008-0074-z. Epub 2008 Jul 30.
7
Vestibulo-ocular arreflexia in families with spinocerebellar ataxia type 3 (Machado-Joseph disease).3型脊髓小脑共济失调(马查多-约瑟夫病)家族中的前庭眼反射消失
J Neurol Neurosurg Psychiatry. 2003 Oct;74(10):1403-6. doi: 10.1136/jnnp.74.10.1403.
8
Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon.脊髓小脑性共济失调3型/马查多-约瑟夫病突变与两个基因内多态性之间的连锁不平衡,其中一个多态性X359Y影响终止密码子。
Am J Hum Genet. 1997 Jun;60(6):1548-52. doi: 10.1016/S0002-9297(07)64251-7.
9
Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease.对四个患有马查多-约瑟夫病的葡萄牙裔巴西家庭中MJD1基因不稳定的扩展CAG重复序列的特征分析。
J Med Genet. 1995 Oct;32(10):827-30. doi: 10.1136/jmg.32.10.827.