Pathology of Familial Amyloidotic Polyneuropathy Occurring in Kumamoto
Familial amyloidotic polyneuropathy (FAP) is a heredofamilial amyloidosis transmitted by autosomal dominant trait, occurring in middle-aged adults, and characterized clinically by sensory dominant polyneuropathy starting from the lower limbs, autonomic dysfunction, cardiac arrhythmias, cardiac conduction disturbances and emaciation. Since its description by Andrade (1952) in Portugal, this disorder was reported in Sweden, United States of America, Finland, Japan or some other countries. In Japan, it is known that there are two major groups of families of FAP in Kumamoto and Nagano prefectures. Recent biochemical studies have elucidated that amyloid precursor protein of FAP is abnormal prealbumin and that in its primary structure valine located at the 30th portion of 127 amino acid sequence of normal prealbumin is replaced by methionine (Tawara et al. 1983). Furthermore, a couple of new methods for the diagnosis of FAP, such as radioimmunoassay method or DNA diagnostic method, have been developed and analysis of the disorder in the gene level is also in progress more recently. As for the families of FAP in the Kumamoto prefecture; however, there is no extensive pathologic study except for two autopsy cases reported by Shirabe et al. (1973).
KeywordsAmyloid Deposition Sural Nerve Autopsy Case Small Blood Vessel Myelinated Nerve Fiber
Unable to display preview. Download preview PDF.
- Gafni, J., Fischel, B., Reif, R., Yaron, M., and Pras, M., 1985, Amyloidotic polyneuropathy in a Jewish family. Evidence for the genetic heterogeneity of the lower limb familial amyloidotic neuropathies, Q. J. Med., 55; 33–44.Google Scholar
- Kito, S., Yamashita, M., Matsumoto, H., and Miyoshi, R., 1985, Familial amyloidosis, Pathol. Clin. Med., 3; 167 (in Japanese).Google Scholar
- Lev, M., Widran, J., and Erickson, E.E., 1951, A method for the histopathologic study of the atrioventricular node, bundle, and branches, Arch. Pathol., 52; 73.Google Scholar
- Shirabe, T., Hashimoto, M., Araki, S., Mawatari, S., and Kuroiwa, Y., 1973, Pathology of polyneurotic amyloidosis in a Japanese family, a report of two cases in; Progress of Neuropathology, Vol. 2, pp. 409, H. M. Zimmermann, ed., Grune and Stratton, New York.Google Scholar
- Shoji, S., Kaneko, M., Tsukada, N., and Kato, M., 1981, Immunologic and immunohistochemical study of familial amyloid polyneuropathy, Neurol., 31; 149.Google Scholar