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Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes.

Human genomics - 17 Jun 2023

Silvaieh Sara, König Theresa, Wurm Raphael, Parvizi Tandis, Berger-Sieczkowski Evelyn, Goeschl Stella, Hotzy Christoph, Wagner Matias, Berutti Riccardo, Sammler Esther, Stögmann Elisabeth, Zimprich Alexander

Abstract excerpt

Early-onset dementia (EOD), with symptom onset before age 65, has a strong genetic burden. Due to genetic and clinical overlaps between different types of dementia, whole-exome sequencing (WES) has emerged as an appropriate screening method for diagnostic testing and novel gene-finding approaches. We performed WES and C9orf72 repeat testing in 60 well-defined Austrian EOD patients. Seven patients (12%) carried...

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Identifiers

PMID: 37330543
DOI: 10.1186/s40246-023-00499-z
PMCID: PMC10276391

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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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