Phenotypic heterogeneity in a family with FAP due to a TTR Leu58Arg mutation: a clinicopathologic study.
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.
Motozaki
Yuko
Y
Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, 13-1 Takara-machi, Kanazawa 920-8641, Japan. yukokato@med.kanazawa-u.ac.jp
Sugiyama
Yu
Y
Ishida
Chiho
C
Komai
Kiyonobu
K
Matsubara
Shiro
S
Yamada
Masahito
M
D000328:Adult; D028227:Amyloid Neuropathies, Familial / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D001921:Brain / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D002349:Carpal Tunnel Syndrome / Q000235:genetics; D004252:DNA Mutational Analysis; D015785:Eye Diseases, Hereditary / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D008578:Meninges / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009206:Myocardium / Q000378:metabolism / Q000473:pathology; D010375:Pedigree; D010525:Peripheral Nerves / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D010641:Phenotype; D011228:Prealbumin / Q000235:genetics*; D014781:Viscera / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D014822:Vitreous Body / Q000473:pathology / Q000503:physiopathology
D011228:Prealbumin