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Article

A new Thr49Pro transthyretin gene mutation associated with leptomeningeal amyloidosis.

Journal of the neurological sciences - 15 Sept 2008

Nakagawa Kazuma, Sheikh Sarah I, Snuderl Matija, Frosch Matthew P, Greenberg Steven M

Abstract excerpt

Leptomeningeal amyloidosis is a rare central nervous system manifestation of systemic amyloidosis from transthyretin (TTR) mutation. Ten TTR gene mutations associated with this condition have been described. We report the clinical, radiological, and pathological features of a case of leptomeningeal amyloidosis from a novel Thr49Pro TTR gene mutation. A 53 year-old man presented with recurrent episodes of...

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Source

Identifiers

PMID: 18579156
DOI: 10.1016/j.jns.2008.05.014

Genes

TTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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