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

Rare Genetic Variant in SORL1 May Increase Penetrance of Alzheimer's Disease in a Family with Several Generations of APOE-ɛ4 Homozygosity.

Journal of Alzheimer's disease : JAD - 1 Jan 2017

Louwersheimer Eva, Cohn-Hokke Petra E, Pijnenburg Yolande A L, Weiss Marjan M, Sistermans Erik A, Rozemuller Annemieke J, Hulsman Marc, van Swieten John C, van Duijn Cock M, Barkhof Frederik, Koene Teddy, Scheltens Philip, Van der Flier Wiesje M, Holstege Henne

Abstract excerpt

BACKGROUND: The major genetic risk factor for late onset Alzheimer's disease (AD) is the APOE-ɛ4 allele. However, APOE-ɛ4 homozygosity is not fully penetrant, suggesting co-occurrence of additional genetic variants. OBJECTIVE: To identify genetic factors that, next to APOE-ɛ4 homozygosity, contribute to the development of AD. METHODS: We identified a family with nine AD patients spanning four generations, with an...

Read the complete abstract on PubMed

Topics

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

Share to Alzheimer Disease
Share to Amyloid beta-Protein Precursor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Apolipoprotein E4

Share to Family Health

Share to Homeodomain Proteins

Share to Presenilin-1

Share to Presenilin-2

Share to Receptors, Opioid

Source

Open in PubMed Open full text

Identifiers

PMID: 27911290
DOI: 10.3233/JAD-160091
PMCID: PMC5240543

Genes

APOE
SORL1
TSHZ3
APP
PSEN1
PSEN2

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

Rare Genetic Variant in SORL1 May Increase Penetrance of Alzheimer's Disease in a Family with Several Generations of APOE-ɛ4 Homozygosity.PMID 27911290Read ↗

A familial missense variant in the Alzheimer's disease gene SORL1 impairs its maturation and endosomal sorting.Semantic proximity Read ↗

What contribution can genetics make to predict the risk of Alzheimer's disease?Semantic proximity Read ↗

A familial missense variant in the Alzheimer’s Disease gene <i>SORL1</i> impairs its maturation and endosomal sortingSemantic proximity Read ↗

Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.Semantic proximity Read ↗

Novel Rare SORL1 Variants in Early-Onset Dementia.Semantic proximity Read ↗

Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene.Semantic proximity Read ↗

Characterization of pathogenic SORL1 genetic variants for association with Alzheimer's disease: a clinical interpretation strategy.Semantic proximity Read ↗

Sorl1 as an Alzheimer's disease predisposition gene?Semantic proximity Read ↗

The impact of rare genetic variants on Alzheimer disease.Semantic proximity Read ↗

Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer’s Disease Before 51 YearsSemantic proximity Read ↗

Whole Exome Sequencing in 20,197 Persons for Rare Variants in Alzheimer DiseaseSemantic proximity Read ↗

Cell-type-specific regulation of APOE levels in human neurons by the Alzheimer’s disease risk gene SORL1Semantic proximity Read ↗

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