| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 1916128 | Journal of the Neurological Sciences | 2007 | 4 Pages |
Abstract
A family with familial amyloid polyneuropathy (FAP) due to a transthyretin (TTR) Leu58Arg mutation was investigated clinicopathologically. The proband presented with sensorimotor-autonomic polyneuropathy and autopsy demonstrated massive amyloid deposition in the peripheral nerves and heart. However, the mother was characterized by carpal tunnel syndrome and ocular vitreous opacities. Thus, there was considerable phenotypic heterogeneity among family members despite the identical TTR genotype.
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Authors
Yuko Motozaki, Yu Sugiyama, Chiho Ishida, Kiyonobu Komai, Shiro Matsubara, Masahito Yamada,