Late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Clinicopathological and genetic features.

摘要: Clinicopathological and genetic features were assessed on 35 Japanese families affected by late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated polyneuropathy, FAP TTR Met30) whose siblings unrelated to endemic foci. In these patients (50 years or older), the most common initial symptom was paraesthesias in legs. Autonomic symptoms generally mild did not seriously affect daily activities. The male-to-female ratio extremely high (10.7 : 1). A family history evident only 11 out of families, other apparently sporadic. rate penetrance very low. Symptomatic cases showed a late age onset, male preponderance clinical similar those probands. Asymptomatic carriers, predominantly female, detected relatively life. geographical distribution late-onset, Met30 scattered throughout Japan. three autopsy 20 sural nerve biopsy specimens, neurons sympathetic sensory ganglia preserved. Amyloid deposition seen peripheral nervous system, particularly ganglia, dorsal root proximal trunks such as sciatic nerve. These abnormalities milder than typical early-onset Met30, observed two foci this disease. While axonal degeneration prominent myelinated fibres, resulting severe fibre loss, unmyelinated fibres Our distinct from that occurred Factors responsible for clinicopathological differences between forms need be identified.