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来自喀土穆的一个苏丹家庭中的亨廷顿病

Huntington's disease in a Sudanese family from Khartoum.

作者信息

Scrimgeour E M, Samman Y, Brock D J

机构信息

Department of Medicine, National Guard King Khalid Hospital, Jeddah, Saudi Arabia.

出版信息

Hum Genet. 1995 Nov;96(5):624-5. doi: 10.1007/BF00197424.

DOI:10.1007/BF00197424
PMID:8530016
Abstract

Typical Huntington's disease (HD) was studied in a 40-year-old Sudanese man from Khartoum. He had 51 CAG repeats in the Huntington's gene. It is suspected that his mother and his 16-year-old son (both deceased) were also affected. Up to now, there had only been anecdotal evidence of HD in the Sudanese.

摘要

对一名来自喀土穆的40岁苏丹男子的典型亨廷顿病(HD)进行了研究。他的亨廷顿基因中有51个CAG重复序列。据怀疑,他的母亲和他16岁的儿子(均已去世)也受到了影响。到目前为止,苏丹仅有关于HD的传闻证据。

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本文引用的文献

1
Huntington's disease in two unrelated Arab kindreds and in an Afghani family resident in Saudi Arabia.两个不相关的阿拉伯家族以及居住在沙特阿拉伯的一个阿富汗家庭中的亨廷顿舞蹈症。
J Med Genet. 1994 Oct;31(10):819-20. doi: 10.1136/jmg.31.10.819.
2
Bicaudate diameter--the most specific and simple CT parameter in the diagnosis of Huntington's disease.双尾状核直径——亨廷顿舞蹈病诊断中最具特异性且最简单的CT参数。
Neuroradiology. 1984;26(1):25-8. doi: 10.1007/BF00328198.
3
Genetic linkage between Huntington disease and the D4S10 locus in South African families: further evidence against non-allelic heterogeneity.
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.
4
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.
5
Huntington disease (chorea) in the middle East.中东地区的亨廷顿病(舞蹈症)
Sultan Qaboos Univ Med J. 2009 Apr;9(1):16-23. Epub 2009 Mar 16.
南非家族中亨廷顿舞蹈症与D4S10基因座之间的遗传连锁:反对非等位基因异质性的进一步证据。
Hum Genet. 1991 Oct;87(6):701-8. doi: 10.1007/BF00201729.
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Huntington disease in black African populations.
Hum Genet. 1992 Sep-Oct;90(1-2):186-7. doi: 10.1007/BF00210775.