Postmortem pathological findings in a Japanese patient with familial amyloidosis, Finnish type (FAF)

Abstract

We report the histopathological findings for the first autopsy of a Japanese patient with familial amyloidosis, Finnish type (FAF). The patient was an 82-year-old man with the clinical triad of FAF and the causative gene abnormality of gelsolin. Amyloid deposition on the visceral organs was not significant except for the arterial walls, most prominent on the internal elastic lamina. Cerehrovascular amyloidosis with Aβ immunoreactivity accompanied by a small number of senile plaques was seen in the brain. Moderate amyloid deposits were present in the endoneuritnn and arterioles in the intracranial roots of the facial and trigeminal nerves, but no amyloid deposits were present in the intralingual nerves. Limb peripheral nerves and autonomic nerves showed amyloid deposits localized on the perineurium and epineurium, hut no significant loss of nerve fibers. The pattern of AGel immunoreactive amyloid deposition in our patient was similar to that described in Finnish patients with FAF and these amyloid deposits occurred mainly at the proximal parts of the involved cranial nerves; however, cerebral Aβ amyloid deposition in this patient could be an age-rather than a disease-related phenomenon.

Key Words:

• FAMILIAL AMYLOIDOSIS
• AMYLOID
• GELSOLIN
• β-PROTEIN
• CRANIAL POLY NEUROPATHY