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Article

A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures.

Neurology - 1 Feb 1999

Ezquerra M, Carnero C, Blesa R, Gelpí J L, Ballesta F, Oliva R

Abstract excerpt

OBJECTIVE: To characterize the mutation responsible for early-onset AD in a large Spanish kindred. BACKGROUND: Mutations in the presenilin 1 (PS1) gene have been identified and are known to be responsible for 18 to 50% of familial early-onset AD cases. METHODS: Patients were characterized clinically. The proband was further studied with EEG, CSF analysis, CT, brain biopsy, and histology. Other members were...

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Identifiers

PMID: 10025789
DOI: 10.1212/wnl.52.3.566

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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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