Ellie E, Julien J, Ferrer X, Riss I, Durquety M C
Département de Neurologie, Hôpital du Haut-Lévêque, Pessac, France.
J Neurol. 1989 Oct;236(7):432-4. doi: 10.1007/BF00314907.
The case of a 41-year-old woman with cerebral calcification of a rather unusual extent is reported. This condition was associated with mental deficiency, pseudohypoparathyroidism and Albright's hereditary osteodystrophy. Four years later hypothyroidism was diagnosed. Visual impairment and electroretinogram abnormality suggested a retinopathy involving mostly rods. Despite their rarity, pseudohypoparathyroidism and Albright's hereditary osteodystrophy are of major interest, since they represent the only human disease states in which G protein function has been found to be disrupted. The overall clinical picture was strongly suggestive of a genetic deficiency of a guanine nucleotide-binding protein, termed Gs. The putative involvement of another G protein, contained in rods and cones, transducin, in the pathogenesis of the retinopathy is discussed.
报告了一名41岁女性，其脑钙化程度相当罕见。这种情况与智力缺陷、假性甲状旁腺功能减退和奥尔布赖特遗传性骨营养不良有关。四年后诊断出甲状腺功能减退。视力损害和视网膜电图异常提示主要累及视杆细胞的视网膜病变。尽管假性甲状旁腺功能减退和奥尔布赖特遗传性骨营养不良很罕见，但它们非常重要，因为它们是已发现G蛋白功能被破坏的仅有的人类疾病状态。总体临床情况强烈提示一种称为Gs的鸟嘌呤核苷酸结合蛋白存在基因缺陷。文中讨论了视杆细胞和视锥细胞中含有的另一种G蛋白转导素可能参与视网膜病变发病机制的情况。
