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Article

Association of a presenilin 1 S170F mutation with a novel Alzheimer disease molecular phenotype.

Archives of neurology - 1 May 2007

Piccini Alessandra, Zanusso Gianluigi, Borghi Roberta, Noviello Cristiana, Monaco Salvatore, Russo Roberta, Damonte Gianluca, Armirotti Andrea, Gelati Matteo, Giordano Renzo, Zambenedetti Pamela, Russo Claudio, Ghetti Bernardino, Tabaton Massimo

Abstract excerpt

OBJECTIVE: To report an ataxic variant of Alzheimer disease expressing a novel molecular phenotype. DESIGN: Description of a novel phenotype associated with a presenilin 1 mutation. SETTING: The subject was an outpatient who was diagnosed at the local referral center. PATIENT: A 28-year-old man presented with psychiatric symptoms and cerebellar signs, followed by cognitive dysfunction. Severe beta-amyloid (Abeta)...

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Identifiers

PMID: 17502474
DOI: 10.1001/archneur.64.5.738

Genes

PSEN1

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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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