ABSTRACT
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. FAP ATTR Tyr114Cys is classified into the ocluloleptomeningeal type of familial amyloidotic polyneuropathy. The neurological findings in FAP ATTR Tyr114Cys patients accorded with those of cerebral amyloid angiopathy. Moreover, histopathological findings such as amyloid deposition in the blood vessels of the cerebral parenchyma also accorded with those of cerebral amyloid angiopathy. In conclusions, CAA is deeply connected with development of manifestations of the CNS in FAP ATTR Tyr114Cys patients. Disruption of the blood brain barrier and the blood cerebrospinal fluid barrier might occur in CAA in FAP ATTR Tyr114Cys.
