TY - JOUR
T1 - Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease Patients
AU - Ganoza, Christian A.
AU - Westenberger, Ana
AU - Paul, Jefri J.
AU - Curado, Filipa
AU - Rennecke, Jörg
AU - Mannepalli, Sumanth
AU - Zonic, Emir
AU - Saravanakumar, Deepa
AU - Paknia, Omid
AU - Al-Ali, Ruslan
AU - Laabs, Björn Hergen
AU - Csoti, Ilona
AU - Valzania, Franco
AU - Vandenberghe, Wim
AU - Reetz, Katrin
AU - Afshari, Mitra
AU - Hassin-Baer, Sharon
AU - Fonoff, Erich Talamoni
AU - Gruber, Doreen
AU - de Rosa, Anna
AU - Musacchio, Thomas
AU - de Carvalho Aguiar, Patricia
AU - Negrotti, Anna
AU - Tumas, Vitor
AU - Gomez-Esteban, Juan Carlos
AU - Gurevich, Tanya
AU - Pavese, Nicola
AU - Kulisevsky, Jaime
AU - Sammler, Esther
AU - Klein, Christine
AU - Bauer, Peter
AU - Beetz, Christian
N1 - Publisher Copyright:
© 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
PY - 2026/4
Y1 - 2026/4
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/105025744020
U2 - 10.1002/mds.70161
DO - 10.1002/mds.70161
M3 - Journal articles
C2 - 41439479
AN - SCOPUS:105025744020
SN - 0885-3185
VL - 41
SP - 1020
EP - 1027
JO - Movement Disorders
JF - Movement Disorders
IS - 4
ER -