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Article

Familial amyloidosis of the Finnish type: clinical and neurophysiological features of two index cases.

BMJ case reports - 15 Nov 2022

Antunes Cunha Inês, Brás Ana, Silva Fátima, Matos Anabela

Abstract excerpt

Familial amyloidosis of the Finnish type (FAF) is a rare multisystemic disorder caused by mutations in the gelsolin gene. The clinical presentation is typically characterised by a triad of ophthalmic, neurological and dermatological findings. FAF has been reported in several countries, primarily in Finland and recently in Portugal. We report the first genetically confirmed cases of FAF from two unrelated families...

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Identifiers

PMID: 36379630
DOI: 10.1136/bcr-2021-245764
PMCID: PMC9668035

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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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