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Familial leptomeningeal amyloidosis with a transthyretin variant Asp18Gly representing repeated subarachnoid haemorrhages with superficial siderosis

机译:家族性软脑膜淀粉样变性病,伴转甲状腺素蛋白变体Asp18Gly,代表反复蛛网膜下腔出血伴浅表性铁锈病

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摘要

Methods: The authors reported on a 42 year old man (patient 1) and his 45 year old brother (patient 2), both suffering from subarachnoid haemorrhage (SAH) without and with hydrocephalus, respectively. DNA sequences of the TTR gene were determined in both patients and the patients' clinical features described. A surgical biopsy of the leptomeninges was performed on patient 1.
机译:方法:作者报告了一个分别患有无脑积水和蛛网膜下腔出血的蛛网膜下腔出血(SAH)的42岁男性(患者1)和他45岁的兄弟(患者2)。在两名患者中确定了TTR基因的DNA序列,并描述了患者的临床特征。对患者1进行了软脑膜切除术的手术活检。

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