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

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

in Activities of daily living / Adult / Age / Age of onset / Alzheimer's disease / Atrophy / Behavior / Biological markers / Biomarkers / Brain / Brain - diagnostic imaging / Brain - pathology / Colombia / Dementia / Female / Frontotemporal / Frontotemporal Lobar Degeneration - diagnosis / Frontotemporal Lobar Degeneration - genetics / Frontotemporal Lobar Degeneration - pathology / Genetics / Humans / Information storage / Integrative approach / Magnetic Resonance Imaging / Male / Medical diagnosis / Medical imaging / Memory / Middle Aged / Neuroimaging / Neuropathology / Neuropsychological Tests / Neuropsychology / Patients / Phenotype / Population-based studies / Progranulins - genetics / Semantics / Variants / Whole genome sequencing

2026

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

2026

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

2026

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Journal Article

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

López, Greizy,

Aguillón, David,

García-García, Milena,

Matallana, Diana Lucía,

Gómez Navarro, Luisa Fernanda,

Gelvez, Nancy,

Acosta-Uribe, Juliana,

Zubiri, Victoria,

Barbosa-Carvajal, Juan Pablo,

Reyes, Pablo,

García-Cifuentes, Elkin

2026

Overview

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). We conducted clinical, neuropsychological, neuroimaging, and genetic analysis. Biomarkers were included for one case. At 42 years old, Case 1 presented a predominant amnestic profile and carried the GRN c.21G > A (p.Trp7*) variant. Case 2 debuted with a semantic impairment at 62 years old and was a carrier of GRN c.1098T > A (p.Cys366*) variant. Brain imaging revealed asymmetric temporal atrophy, and biomarkers supported diagnosis of FTLD. GRN variants can mimic early-onset AD. An integrative approach including serial clinical, genetic, brain imaging, and biomarker analysis are essential for diagnosing Amnestic variants of FTLD in admixed genetic populations.

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Publisher

John Wiley & Sons, Inc

Subject

Activities of daily living

/ Adult

/ Age

/ Age of onset

/ Alzheimer's disease

/ Atrophy

/ Behavior