HEREDITARY CEREBRAL AMYLOID ANGIOPATHY ASSOCIATED WITH ATTR TYR114CYS

摘要

Cerebral amyloid angiopathy (CAA) is characterized by the amyloid deposition in the cerebral blood vessels of the brain and the leptomeninges. Typical clinical manifestations of the central nervous system (CNS) include dementia, cerebral hemorrhage, transient ischemic attacks, cerebral infarction, and convulsion. Although amyloid deposits in the meningo-cerebrovascular system were thought to be the cause of the manifestations of the CNS, precise mechanism remains to be elucidated.FAP ATTR Tyr114Cys is classified into the ocluloleptomeningeal type of familial amyloidotic polyneuropathy (FAP). Our recent clinical studies revealed that most of FAP ATTR Tyr114Cys patients showed various manifestations of the CNS in addition to vitreous opacity and polyneuropathy during the course of the disease. We examined the manifestations of the CNS and amyloid formation mechanism in FAP ATTR Tyr114Cys patients.