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Article

Genetic and clinical characteristics of hereditary transthyretin amyloidosis in endemic and non-endemic areas: experience from a single-referral center in Japan.

Journal of neurology - 1 Jan 2018

Yamashita Taro, Ueda Mitsuharu, Misumi Yohei, Masuda Teruaki, Nomura Toshiya, Tasaki Masayoshi, Takamatsu Kotaro, Sasada Keiko, Obayashi Konen, Matsui Hirotaka, Ando Yukio

Abstract excerpt

Hereditary transthyretin (ATTR) amyloidosis is a life-threatening, autosomal dominant, systemic amyloidosis caused by mutant transthyretin. In addition to ATTRV30M in endemic and non-endemic areas, more than 140 non-V30M mutations occur worldwide. The aim of this study was to analyze the clinical characteristics and genetic frequencies of hereditary ATTR amyloidosis. Diagnostic results and clinical manifestations...

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Share to Aged, 80 and over
Share to Amyloid Neuropathies, Familial

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29177547
DOI: 10.1007/s00415-017-8640-7

Genes

TTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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