000133070 001__ 133070
000133070 005__ 20250923084412.0
000133070 0247_ $$2doi$$a10.3390/biomedicines12020356
000133070 0248_ $$2sideral$$a137789
000133070 037__ $$aART-2024-137789
000133070 041__ $$aeng
000133070 100__ $$aBorrego-Hernández, Daniel
000133070 245__ $$aIntermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population
000133070 260__ $$c2024
000133070 5060_ $$aAccess copy available to the general public$$fUnrestricted
000133070 5203_ $$aIntermediate 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.
000133070 536__ $$9info:eu-repo/grantAgreement/ES/FIS/PI17-00491$$9info:eu-repo/grantAgreement/ES/FIS/PI21-00286$$9info:eu-repo/grantAgreement/ES/ISCIII-FSE/El FSE invierte en tu futuro
000133070 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000133070 590__ $$a3.9$$b2024
000133070 592__ $$a1.114$$b2024
000133070 591__ $$aPHARMACOLOGY & PHARMACY$$b88 / 352 = 0.25$$c2024$$dQ1$$eT1
000133070 593__ $$aMedicine (miscellaneous)$$c2024$$dQ1
000133070 591__ $$aBIOCHEMISTRY & MOLECULAR BIOLOGY$$b114 / 319 = 0.357$$c2024$$dQ2$$eT2
000133070 593__ $$aBiochemistry, Genetics and Molecular Biology (miscellaneous)$$c2024$$dQ1
000133070 591__ $$aMEDICINE, RESEARCH & EXPERIMENTAL$$b65 / 195 = 0.333$$c2024$$dQ2$$eT2
000133070 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000133070 700__ $$aVázquez-Costa, Juan Francisco
000133070 700__ $$aDomínguez-Rubio, Raúl
000133070 700__ $$aExpósito-Blázquez, Laura
000133070 700__ $$aAller, Elena
000133070 700__ $$aPadró-Miquel, Ariadna
000133070 700__ $$aGarcía-Casanova, Pilar
000133070 700__ $$aColomina, María J.
000133070 700__ $$aMartín-Arriscado, Cristina
000133070 700__ $$0(orcid)0000-0001-5687-6704$$aOsta, Rosario$$uUniversidad de Zaragoza
000133070 700__ $$aCordero-Vázquez, Pilar
000133070 700__ $$aEsteban-Pérez, Jesús
000133070 700__ $$aPovedano-Panadés, Mónica
000133070 700__ $$aGarcía-Redondo, Alberto
000133070 7102_ $$11001$$2420$$aUniversidad de Zaragoza$$bDpto. Anatom.,Embri.Genét.Ani.$$cÁrea Genética
000133070 773__ $$g12, 2 (2024), 356 [13 pp.]$$tBiomedicines$$x2227-9059
000133070 8564_ $$s1277090$$uhttps://zaguan.unizar.es/record/133070/files/texto_completo.pdf$$yVersión publicada
000133070 8564_ $$s2763028$$uhttps://zaguan.unizar.es/record/133070/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000133070 909CO $$ooai:zaguan.unizar.es:133070$$particulos$$pdriver
000133070 951__ $$a2025-09-22-14:30:50
000133070 980__ $$aARTICLE