Author： Yoshinaga Tomofumi Takei Yo-ichi Katayanagi Kazuyoshi Ikeda Shu-ichi
Publisher： Informa Healthcare
ISSN： 1350-6129
Source： Amyloid: The Journal of Protein Folding Disorders, Vol.11, Iss.1, 2004-03, pp. : 56-60
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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.
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