西尔弗综合征
Silver syndrome.
作者信息
Silver John Russell
机构信息
Stoke Mandeville Hospital, Wendover, Bucks HP22 6EA.
出版信息
BMJ. 2007 Sep 1;335(7617):422-3. doi: 10.1136/bmj.39210.408414.AD.
Abstract
When early in his career described a previously unrecognised familial disease he expected it to remain a minor footnote in the medical record. But some 40 years later, identification of the gene responsible has led to research that is advancing our understanding of a wide spectrum of neurological diseases
摘要
在其职业生涯早期，当他描述一种此前未被认识的家族性疾病时，他预计这只会在医学记录中留下一个小注脚。但大约40年后，对致病基因的识别引发了相关研究，这些研究正在增进我们对多种神经系统疾病的理解。
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本文引用的文献
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Friedreich ataxia: from genes to therapies?
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Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
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Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci.
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The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype.
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