Abstract：
The target organs for familial transthyretin amyloidosis are typically the nerves, the heart or even the eyes due to the accumulation of amyloid deposits. Less frequently, these deposits can occur within the central nervous system and drive a specific phenotype of cerebral amyloid angiopathy. We report the case of a 72-year-old woman showing evidence of cerebral amyloid angiopathy, in a context of hereditary transthyretin amyloidosis (hATTR) due to p.(Ser77Tyr) mutation of the TTR gene. Her cognitive assessment on a two-year follow-up was remarkably steady. A very limited number of patients with hereditary transthyretin amyloidosis associated with a cerebral amyloid angiopathy have been reported. Few characteristics could distinguish them from classic cerebral amyloid angiopathy, and more data are needed to highlight specific features. Screening for peripheral neuropathy should be considered for patients referred to memory clinic for atypical cerebral amyloid angiopathy.
摘要：
家族性甲状腺素运载蛋白淀粉样变性的靶器官通常是神经，由于淀粉样沉积物的积累，心脏甚至眼睛。不那么频繁,这些沉积可以发生在中枢神经系统内，并驱动脑淀粉样血管病的特定表型。我们报道了一个72岁女性的案例，显示了大脑淀粉样血管病的证据，在遗传性甲状腺素运载蛋白淀粉样变性（hATTR）的背景下，由于TTR基因的p。（Ser77Tyr）突变。她对两年随访的认知评估非常稳定。据报道，与脑淀粉样血管病相关的遗传性甲状腺素运载蛋白淀粉样变性患者数量非常有限。很少有特征可以将它们与经典的大脑淀粉样血管病区分开来，需要更多的数据来突出特定的特征。对于因非典型脑淀粉样血管病而转诊至记忆诊所的患者，应考虑进行周围神经病变的筛查。
