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Article

Phenotypic diversity of frontotemporal lobar degeneration in two novel GRN variants from Colombia.

Alzheimer's & dementia : the journal of the Alzheimer's Association - 1 May 2026

Barbosa-Carvajal Juan Pablo, García-García Milena, Gómez Navarro Luisa Fernanda, Zubiri Victoria, Gelvez Nancy, López Greizy, Reyes Pablo, García-Cifuentes Elkin, Aguillón David, Acosta-Uribe Juliana, Matallana Diana Lucía

Abstract excerpt

INTRODUCTION: Pathogenic progranulin (GRN) variants are among the main genetic causes of frontotemporal lobar degeneration (FTLD). These variants have been predominantly reported in European cohorts, but their characterization in Latin America remains scarce. We describe two Colombian cases with novel GRN variants with amnestic and semantic syndromes leading to an initial diagnosis of Alzheimer's disease (AD)....

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Identifiers

PMID: 42162939
DOI: 10.1002/alz.71475
PMCID: PMC13239240

Genes

GRN

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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