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Amyloid. 2004 Mar;11(1):56-60.

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

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

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.

PMID:
15185500
[Indexed for MEDLINE]
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