Early-onset Alzheimer’s Disease with Combined SETD2 Deletion and APOE4 Homozygosity: Evidence for a Dual-pathology Mechanism (P10-12.011)

Q: What does this research mean for the field?

The combination of a pathogenic SETD2 deletion and APOE4 homozygosity is associated with early-onset Alzheimer's disease through a dual-pathology mechanism linking neurodevelopmental and neurodegenerative processes. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.ESTABLISHES_NEW_DIRECTION.

Waad Alshammari

doi:10.1212/wnl.0000000000217885

June 9, 2026Neurology

Early-onset Alzheimer’s Disease with Combined SETD2 Deletion and APOE4 Homozygosity: Evidence for a Dual-pathology Mechanism (P10-12.011)

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Key Points

This report aims to illustrate the connection between SETD2 deletion and APOE4 homozygosity in early-onset Alzheimer's disease.
Case report of an autopsy-confirmed individual with early-onset Alzheimer's disease exhibiting SETD2 deletion and APOE4 homozygosity.
Confirmed pathological findings indicate a combination of neurodevelopmental and neurodegenerative changes.
Support for a dual-pathology mechanism in the progression of early-onset Alzheimer's disease.

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Implication

Case report describes dual-pathology mechanisms linking neurodevelopment and neurodegeneration in early-onset Alzheimer's disease.

Abstract

To describe the first reported case of autopsy-confirmed early-onset Alzheimer’s disease (EOAD) associated with a pathogenic SETD2 deletion and APOE4 homozygosity, suggesting a dual-pathology mechanism linking neurodevelopmental and neurodegenerative processes.

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Cite This Study

Waad Alshammari (2026) studied this question.

synapsesocial.com/papers/6a2cf300faef96ed7f055947 https://doi.org/10.1212/wnl.0000000000217885

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Early-onset Alzheimer’s Disease with Combined SETD2 Deletion and APOE4 Homozygosity: Evidence for a Dual-pathology Mechanism (P10-12.011)

Key Points

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Implication

Abstract

Discussion

Cite This Study

Early-onset Alzheimer’s Disease with Combined SETD2 Deletion and APOE4 Homozygosity: Evidence for a Dual-pathology Mechanism (P10-12.011)

Key Points

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Implication

Abstract

Discussion

Cite This Study

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