Hereditary cerebral amyloid angiopathy associated with amyloidogenic transthyretin Y114C

Taro Yamamoto¹⁾, Yukio Ando²⁾

¹⁾Diagnostic Unit for Amyloidosis, Department of Neurology, Kumamoto University Hospital
²⁾Department of Neurology, Graduate School of Medical Sciences, Kumamoto University

Patients with amyloidogenic transthyretin (ATTR) Y114C develop amyloid deposits in cerebral blood vessels, cerebral hemorrhage, and rapidly progressive dementia that presents with hereditary cerebral amyloid angiopathy (CAA). Liver transplantation has become an acceptable treatment of hereditary ATTR amyloidosis (familial amyloid polyneuropathy: FAP), since mutated TTR is mainly produced by the liver. However, liver transplantation might not successfully reduce central nervous system (CNS) manifestations of CAA associated with ATTR Y114C, since ATTR is produced by the choroid plexus even after liver transplantation. Our study revealed that the mortality and occurrence of cerebral hemorrhage and dementia in patients having transplantations were reduced compared with those in patients not having transplantations. The group undergoing transplantations had significantly smaller volumes of intracranial hemorrhage than did the no-transplantation group demonstrating that liver transplantation is effective for CNS manifestations of CAA associated with ATTR Y114C reducing ATTR in the blood.

Address correspondence to Dr. Taro Yamamoto, Diagnostic Unit for Amyloidosis, Department of Neurology, Kumamoto University Hospital (1-1-1, Honjo, Chuo-ku, Kumamoto, 860-8556, Japan)