Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease Patients

Background Parkinsonism may be observed in multiple neurodegenerative diseases, including GRN-associated frontotemporal dementia (FTD-GRN), complicating the differential diagnosis of Parkinson's disease (PD). Objectives To investigate the presence of GRN variants in a large group of PD patients. Met...

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Autores: Ganoza, CA; Westenberger, A; Paul, JJ; Curado, F; Rennecke, J; Mannepalli, S; Zonic, E; Saravanakumar, D; Paknia, O; Al-Ali, R; Laabs, B; Csoti, I; Valzania, F; Vandenberghe, W; Reetz, K; Afshari, M; Hassin-Baer, S; Fonoff, ET; Gruber, D; de Rosa, A; Musacchio, T; Aguiar, PD; Negrotti, A; Tumas, V; Gomez-Esteban, JC; Gurevich, T; Pavese, N; Kulisevsky, J; Sammler, E; Klein, C; Bauer, P; Beetz, C
Tipo de documento: Artículo
Estado:Published version
Fecha de publicación:2026
País:España
Institución:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
Repositorio:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
OAI Identifier:oai:dnet:r-iibsantpa_::9271b43ac6db5b3295162a7a86cdf6b8
Acceso en línea:https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21510
Nivel de acceso:Acceso abierto
Palabra clave:age at onset
frontotemporal dementia
FTD
genetic variants
GRN
GRN-associated frontotemporal dementia
male-to-female ratio
parkinsonism
Parkinson's disease
Sumario:Background Parkinsonism may be observed in multiple neurodegenerative diseases, including GRN-associated frontotemporal dementia (FTD-GRN), complicating the differential diagnosis of Parkinson's disease (PD). Objectives To investigate the presence of GRN variants in a large group of PD patients. Methods We analyzed GRN variants in >18,500 PD patients and compared sociodemographic, genetic, and clinical data between individuals with and without GRN variants. Results Twenty-four (0.13%) PD patients harbored 16 unique pathogenic or likely pathogenic GRN variants. Our GRN variant-positive PD patients had a higher male-to-female ratio and a younger age at onset compared with FTD-GRN patients reported in the literature. Patients with GRN variants showed higher rates of impaired olfactory function and more severe motor symptoms than GRN variant-negative patients. Conclusions FTD-GRN may be indistinguishable from PD. Therefore, comprehensive genetic testing, including GRN analysis, is recommended for patients with clinically diagnosed parkinsonism/PD to guide disease management and prognosis. (c) 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

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