Anticipation in early- but not late-onset familial amyloid polyneuropathy (TTR met 30) in Japan.

摘要: Cases of familial amyloid polyneuropathy with the Met 30 transthyretin mutation (FAP TTR 30) occurring at an early age in Japan are characterized by following: onset second to third decade; a high penetrating rate; initial symptoms including marked autonomic dysfunction, prominent pain, and thermal sensory involvement; steady progression disease over 10 15 years.1 These patients reside two prevalence areas—the village Ogawa on island Honshyu city Arao Kyushyu. In contrast, because advances DNA diagnosis, late-onset cases FAP appearing or 50 years now recognized occur widely throughout Japan; these show no relationship …