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Article

A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's disease and prominent cerebellar ataxia.

Journal of Alzheimer's disease : JAD - 1 Jan 2014

Testi Silvia, Peluso Silvio, Fabrizi Gian Maria, Antenora Antonella, Russo Cinzia Valeria, Pappatà Sabina, Padovani Alessandro, Ferrarini Moreno, Filla Alessandro

Abstract excerpt

PSEN1 gene mutations represent the first cause of familiar early-onset Alzheimer's disease (EOAD). More than 190 mutations in PSEN1 have been reported to date. The clinical phenotype is mainly characterized by cognitive decline but movement disorders have been rarely described. We report a novel PSEN1 mutation (p.Thr147Pro) responsible for a sporadic early-onset dementia with prominent cerebellar symptoms,...

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Source

Identifiers

PMID: 24718101
DOI: 10.3233/JAD-140081

Genes

PSEN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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