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Article

Assessing family history and approaches for identifying patients with dementia with diagnostically significant genetic findings.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2025

König Theresa, Silvaieh Sara, Parvizi Tandis, Wurm Raphael, Goeschl Stella, Uhlik Elena, Farr Clemens, Berger-Sieczkowski Evelyn, Untersteiner Helena, Zimprich Alexander, Stögmann Elisabeth

Abstract excerpt

PURPOSE: A significant proportion of the population reports a positive family history of dementia, which correlates with higher disease risk. As therapeutic advances raise awareness of genetic factors, memory clinics need clear guidelines for identifying patients who would benefit from genetic testing. We aimed to assess the proportion of patients with positive family history in our cohort and a method to improve...

Read the complete abstract on PubMed

Topics

Humans
Male
Female
Dementia
Genetic Testing

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

Middle Aged

Aged

Genetic Predisposition to Disease

Exome Sequencing

C9orf72 Protein

tau Proteins

Alzheimer Disease

Genotype

Frontotemporal Dementia

Presenilin-1

Age of Onset

Medical History Taking

Amyloid beta-Protein Precursor

Source

Identifiers

PMID: 40621734
DOI: 10.1016/j.gim.2025.101517

Genes

C9ORF72
APP
MAPT
PSEN1

Provenance

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