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Article

Clinical, imaging, pathological, and biochemical characterization of a novel presenilin 1 mutation (N135Y) causing Alzheimer's disease.

Neurobiology of aging - 1 Jan 2017

Natelson Love Marissa, Clark David G, Cochran J Nicholas, Den Beste Kyle A, Geldmacher David S, Benzinger Tammie L, Gordon Brian A, Morris John C, Bateman Randall J, Roberson Erik D

Abstract excerpt

We present 2 cases of early-onset Alzheimer's disease due to a novel N135Y mutation in PSEN1. The proband presented with memory and other cognitive symptoms at age 32. Detailed clinical characterization revealed initial deficits in memory with associated dysarthria, progressing to involve executive dysfunction, spastic gait, and episodic confusion with polyspike discharges on long-term electroencephalography....

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Identifiers

PMID: 27793474
DOI: 10.1016/j.neurobiolaging.2016.09.020
PMCID: PMC5154842

Genes

PSEN1

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.

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