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

被引：13

作者：

Yoshinaga, T

Takei, YI

Katayanagi, K

Ikeda, SI ^{[1
]}

机构：

[1] Shinshu Univ, Sch Med, Dept Med 3, Matsumoto, Nagano 3908621, Japan

[2] Ishikawa Prefectural Cent Hosp, Dept Neurol, Kanazawa, Ishikawa 9208530, Japan

[3] Kanazawa Univ, Dept Pathol 2, Sch Med, Kanazawa, Ishikawa 9208640, Japan

来源：

AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS | 2004年 / 11卷 / 01期

关键词：

amyloid; hereditary amyloidosis; transthyretin; neuropathy; homozygosity;

D O I：

10.1080/13506120410001688581

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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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页码：56 / 60

页数：5

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