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Article

Progressive cognitive impairment and familial spastic paraparesis due to PRESENILIN 1 mutation: anatomoclinical characterization.

Journal of neurology - 1 Sept 2022

Altuna Miren, Larumbe Rosa, Zelaya María Victoria, Moreno Sira, García-Solaesa Virginia, Mendioroz Maite, Ramos María Antonia, Erro María Elena

Abstract excerpt

INTRODUCTION: Autosomal dominant Alzheimer's disease (ADAD) due to presenilin 1 (PSEN1) mutation can induce atypical neurological symptoms such as movement disorders and epileptic seizures in the context of early-onset progressive cognitive impairment. METHODS: This study includes the anatomoclinical description of three patients of two generations of the same family with movement disorders and progressive...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 35438347
DOI: 10.1007/s00415-022-11125-8

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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