McKeran R O, Bradbury P, Taylor D, Stern G
J Neurol Neurosurg Psychiatry. 1985 Feb;48(2):172-5. doi: 10.1136/jnnp.48.2.172.
A case of type 1 (adult) Gaucher's disease with a late onset tapeto-retinal degeneration and an initially dopamine responsive extrapyramidal syndrome is described. The literature reporting neurological involvement in type 1 Gaucher's disease is reviewed, and it is concluded that the absence of symptoms and signs of nervous system involvement cannot be used as the sole basis for the classification of this type of Gaucher's disease.
本文描述了一例1型(成人型)戈谢病,其伴有迟发性视网膜色素变性和最初对多巴胺有反应的锥体外系综合征。回顾了关于1型戈谢病神经受累的文献报道,并得出结论:神经系统受累症状和体征的缺失不能作为该型戈谢病分类的唯一依据。