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Huntington's chorea in a black Rhodesian family.

作者信息

Samuels B L, Gelfand M

出版信息

S Afr Med J. 1978 Oct 14;54(16):648-51.

PMID:154174
Abstract

Clinical features suggesting a diagnosis of Huntington's chorea in several siblings in a Black Rhodesian family are described. A progressive and eventually fatal mental deterioration accompanied by gradually worsening choreiform movements has until the present time occurred in only a single generation of this family, which precludes a definitive diagnosis based on the triad of family history, chorea and dementia. It is suggested that Huntington's chorea is the most likely diagnosis.

摘要

相似文献

1
Huntington's chorea in a black Rhodesian family.
S Afr Med J. 1978 Oct 14;54(16):648-51.
2
Huntington's chorea in a black family: a report of 2 cases.一个黑人家庭中的亨廷顿舞蹈症:2例报告
S Afr Med J. 1979 Oct 20;56(17):685-8.
3
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A clinico-genetic study of psychiatric disorder in Huntington's chorea.亨廷顿舞蹈症精神障碍的临床遗传学研究。
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Huntington's disease in five siblings.五名兄弟姐妹患亨廷顿病。
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[Effect of metoclopramide in a subject at risk for Huntington's chorea].
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Linkage of the G8 marker on chromosome 4 to Huntington's disease in a large American black family.美国一个大型黑人家庭中4号染色体上G8标记与亨廷顿舞蹈病的连锁关系。
N Engl J Med. 1986 Oct 30;315(18):1165-6. doi: 10.1056/NEJM198610303151815.
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[Natural history of Huntington's chorea].[亨廷顿舞蹈症的自然病史]
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Linkage analysis of G8 and Huntington's disease.G8与亨廷顿舞蹈症的连锁分析。
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引用本文的文献

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An exploration of the genetics of the mutant Huntingtin (mHtt) gene in a cohort of patients with chorea from different ethnic groups in sub-Saharan Africa.对撒哈拉以南非洲不同种族的舞蹈症患者队列中的突变亨廷顿(mHtt)基因进行遗传学探索。
Ann Hum Genet. 2025 Jul;89(4):149-157. doi: 10.1111/ahg.12557. Epub 2024 Apr 2.
2
Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.导致类亨廷顿病2型(HDL2)的连接蛋白3(JPH3)扩展突变在有非洲血统且表现出亨廷顿病表型的南非患者中很常见。
Am J Med Genet B Neuropsychiatr Genet. 2015 Oct;168(7):573-85. doi: 10.1002/ajmg.b.32332. Epub 2015 Jun 16.
3
Epidemiology of neurodegenerative diseases in sub-Saharan Africa: a systematic review.
撒哈拉以南非洲神经退行性疾病的流行病学:一项系统综述。
BMC Public Health. 2014 Jun 26;14:653. doi: 10.1186/1471-2458-14-653.
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Huntington's disease in Tanzania.坦桑尼亚的亨廷顿舞蹈症
J Med Genet. 1981 Jun;18(3):200-3. doi: 10.1136/jmg.18.3.200.
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The high frequency of juvenile Huntington's chorea in South Africa.南非青少年亨廷顿舞蹈症的高发病率。
J Med Genet. 1982 Apr;19(2):94-7. doi: 10.1136/jmg.19.2.94.
6
Huntington disease in Maryland: clinical aspects of racial variation.马里兰州的亨廷顿病:种族差异的临床特征
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7
Huntington disease in black African populations.
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