Postmortem findings in a familial amyloid polyneuropathy patient with homozygosity of the mutant Val30Met transthyretin gene.
Autopsy findings in a 68-year-old FAP patient with a homozygous mutation of the Val30Met TTR gene were described. In addition to amyloid deposits on the visceral organs, peripheral nerves and the vitreous body, severe deposition of amyloid in the leptomeninges and subarachnoid vessels in the brain and spinal cord was present. A double dose of the mutant gene may accelerate amyloid deposition on the ocular and meningeal tissues.
Yoshinaga
Tomofumi
T
Department of Neurology, Ishikawa Prefectural Central Hospital, Kanazawa 920-8530, Japan.
Takei
Yo-ichi
Y
Katayanagi
Kazuyoshi
K
Ikeda
Shu-ichi
S
D000368:Aged; D019943:Amino Acid Substitution / Q000235:genetics*; D028227:Amyloid Neuropathies, Familial / Q000235:genetics* / Q000473:pathology*; D001921:Brain / Q000473:pathology; D002550:Cerebral Veins / Q000473:pathology; D006720:Homozygote; D006801:Humans; D008715:Methionine / Q000235:genetics*; D010525:Peripheral Nerves / Q000473:pathology; D011228:Prealbumin / Q000235:genetics*; D013116:Spinal Cord / Q000473:pathology; D014633:Valine / Q000235:genetics*
D011228:Prealbumin; D008715:Methionine; D014633:Valine