Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Exploring clinical variability in gelsolin amyloidosis: Brazilian family case study with confocal microscopy.

European journal of ophthalmology - 1 Jul 2024

Abreu Caio Brenno, Merlo Bárbara Flores Culau, Varandas Vinícius da Silva, Dias Juliana de Sá Freire Medrado

Abstract excerpt

INTRODUCTION: Genetic mutations or inflammatory, degenerative, or neoplastic conditions can trigger amyloidosis. Hereditary gelsolin amyloidosis is a genetic disorder primarily marked by amyloid fibrils composed of misfolded gelsolin fragments. CASE REPORT: We present three sisters with AGel amyloidosis, illustrating its clinical diversity. Patient 1, a 51-year-old, had bilateral ptosis, ocular discomfort, and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amyloidosis, Familial
Share to Brazil

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gelsolin

Share to Microscopy, Confocal

Share to Mutation

Share to Pedigree

Source

Identifiers

PMID: 38619860
DOI: 10.1177/11206721241247586

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exploring clinical variability in gelsolin amyloidosis: Brazilian family case study with confocal microscopy.PMID 38619860Read ↗

Clinical and genetic features of AGel amyloidosis caused by novel gelsolin variant and its impact on cardiac function and conduction disordersSemantic proximity Read ↗

Ocular Involvement in Hereditary Amyloidosis.Semantic proximity Read ↗

Atypical Presentation of Gelsolin Amyloidosis in a Man of African Descent with a Novel Mutation in the Gelsolin Gene.Semantic proximity Read ↗

Hereditary gelsolin amyloidosis mimicking Sjögren's syndrome.Semantic proximity Read ↗

Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide.Semantic proximity Read ↗

A molecular perspective of gelsolin amyloidosis: An old foe with new faces.Semantic proximity Read ↗

Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel GSN Variant p.Glu580Lys.Semantic proximity Read ↗

Natural course of Finnish gelsolin amyloidosis.Semantic proximity Read ↗

Familial amyloidotic polyneuropathy type IV--gelsolin amyloidosis.Semantic proximity Read ↗

Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsy.Semantic proximity Read ↗

Gelsolin amyloidosis as a cause of early aging and progressive bilateral facial paralysis.Semantic proximity Read ↗

Familial amyloidosis of the Finnish type: clinical and neurophysiological features of two index cases.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.