Postmortem findings in a familial amyloid polyneuropathy patient with homozygosity of the mutant Val30Met transthyretin gene

Tomofumi Yoshinaga; Yo-ichi Takei; Kazuyoshi Katayanagi; Shu-ichi Ikeda

doi:10.1080/13506120410001688581

Postmortem findings in a familial amyloid polyneuropathy patient with homozygosity of the mutant Val30Met transthyretin gene

Amyloid. 2004 Mar;11(1):56-60. doi: 10.1080/13506120410001688581.

Authors

Tomofumi Yoshinaga¹, Yo-ichi Takei, Kazuyoshi Katayanagi, Shu-ichi Ikeda

Affiliation

¹ Department of Neurology, Ishikawa Prefectural Central Hospital, Kanazawa 920-8530, Japan.

PMID: 15185500
DOI: 10.1080/13506120410001688581

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Aged
Amino Acid Substitution / genetics*
Amyloid Neuropathies, Familial / genetics*
Amyloid Neuropathies, Familial / pathology*
Brain / pathology
Cerebral Veins / pathology
Homozygote
Humans
Methionine / genetics*
Peripheral Nerves / pathology
Prealbumin / genetics*
Spinal Cord / pathology
Valine / genetics*

Substances

Prealbumin
Methionine
Valine