133070 20260217205457.0 doi 10.3390/biomedicines12020356 sideral 137789 ART-2024-137789 eng Borrego-Hernández, Daniel Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population 2024 Access copy available to the general public Unrestricted Intermediate CAG expansions in the gene ataxin-2 (ATXN2) are a known risk factor for ALS, but little is known about their role in FTD risk. Moreover, their contribution to the risk and phenotype of patients might vary in populations with different genetic backgrounds. The aim of this study was to assess the relationship of intermediate CAG expansions in ATXN2 with the risk and phenotype of ALS and FTD in the Spanish population. Repeat-primed PCR was performed in 620 ALS and 137 FTD patients in three referral centers in Spain to determine the exact number of CAG repeats. In our cohort, ≥27 CAG repeats in ATXN2 were associated with a higher risk of developing ALS (odds ratio [OR] = 2.666 [1.471–4.882]; p = 0.0013) but not FTD (odds ratio [OR] = 1.446 [0.558–3.574]; p = 0.44). Moreover, ALS patients with ≥27 CAG repeats in ATXN2 showed a shorter survival rate compared to those with <27 repeats (hazard ratio [HR] 1.74 [1.18, 2.56], p = 0.005), more frequent limb onset (odds ratio [OR] = 2.34 [1.093–4.936]; p = 0.028) and a family history of ALS (odds ratio [OR] = 2.538 [1.375–4.634]; p = 0.002). Intermediate CAG expansions of ≥27 repeats in ATXN2 are associated with ALS risk but not with FTD in the Spanish population. ALS patients carrying an intermediate expansion in ATXN2 show more frequent limb onset but a worse prognosis than those without expansions. In patients carrying C9orf72 expansions, the intermediate ATXN2 expansion might increase the penetrance and modify the phenotype. info:eu-repo/grantAgreement/ES/FIS/PI17-00491 info:eu-repo/grantAgreement/ES/FIS/PI21-00286 info:eu-repo/grantAgreement/ES/ISCIII-FSE/El FSE invierte en tu futuro info:eu-repo/semantics/openAccess by https://creativecommons.org/licenses/by/4.0/deed.es 3.9 2024 PHARMACOLOGY & PHARMACY 88 / 352 = 0.25 2024 Q1 T1 BIOCHEMISTRY & MOLECULAR BIOLOGY 114 / 320 = 0.356 2024 Q2 T2 MEDICINE, RESEARCH & EXPERIMENTAL 65 / 195 = 0.333 2024 Q2 T2 1.114 2024 Medicine (miscellaneous) 2024 Q1 Biochemistry, Genetics and Molecular Biology (miscellaneous) 2024 Q1 6.8 2024 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Vázquez-Costa, Juan Francisco Domínguez-Rubio, Raúl Expósito-Blázquez, Laura Aller, Elena Padró-Miquel, Ariadna García-Casanova, Pilar Colomina, María J. Martín-Arriscado, Cristina Osta, Rosario Universidad de Zaragoza (orcid)0000-0001-5687-6704 Cordero-Vázquez, Pilar Esteban-Pérez, Jesús Povedano-Panadés, Mónica García-Redondo, Alberto 1001 420 Universidad de Zaragoza Dpto. Anatom.,Embri.Genét.Ani. Área Genética 12, 2 (2024), 356 [13 pp.] Biomedicines 2227-9059 1277090 http://zaguan.unizar.es/record/133070/files/texto_completo.pdf Versión publicada 2763028 http://zaguan.unizar.es/record/133070/files/texto_completo.jpg?subformat=icon icon Versión publicada oai:zaguan.unizar.es:133070 articulos driver 2026-02-17-20:20:53 ARTICLE