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Gonzalez S.J.,Institute Ciencias Basicas y Medicina Experimental | Rojas J.I.,Servicio de Neurologia | Redal M.A.,Institute Ciencias Basicas y Medicina Experimental | Patrucco L.,Servicio de Neurologia | And 3 more authors.
Journal of the Neurological Sciences | Year: 2011

Introduction: Previous reports have shown that CD24 gene polymorphisms have an important role in the risk of development and progression of multiple sclerosis (MS). Objective: To investigate the association between P226 polymorphisms (T/C), P1056 (A/G), P1527 (TG/del) and P1626 (A/G) of the CD24 gene and MS, comparing allele and genotype frequencies of patients versus controls. Materials and methods: We analyzed DNA samples from 102 MS patients and from 205 unrelated healthy individuals. DNA was extracted from peripheral blood and polymorphic regions were amplified by nested PCR. Genotyping was performed by restriction fragments length polymorphisms. Time from disease onset to reach EDSS 6 and time to conversion to secondary progressive phase (SP) were used as variables of survival as well as percentage of patients that reached those endpoints. We used the log Rank test for data comparison (significant p ≤ 0.05). Results: We found no differences between cases and controls in frequency of polymorphisms at the CD24 gene. 44.6% of patients with the AA genotype (P1626) reached an EDSS 6 vs 16% of patients with other genotypes (p < 0.001, HR 3.2, 95% CI 1.4 to 7.4). 45.8% of patients with the AA genotype reached SPMS vs 16.7% without this genotype (p < 0.001, HR 3.4, 95% CI 1.5 to 7.8). Conclusions: This study showed a strong association between the presence of AA genotype in the 1626 polymorphism of the CD24 gene and the risk of disease progression in MS patients. © 2011 Elsevier B.V. All rights reserved.


Gonzalez S.J.,Institute Ciencias Basicas y Medicina Experimental | Rojas J.I.,Servicio de Neurologia | Redal M.A.,Institute Ciencias Basicas y Medicina Experimental | Patrucco L.,Servicio de Neurologia | And 3 more authors.
Neurologia Argentina | Year: 2011

Introduction: Previous reports have shown that CD24 gene polymorphisms have an important role in the risk of development and progression of multiple sclerosis (MS). Objetivos: To investigate the association between P226 polymorphisms (T/C), P1056 (A/G), P1527 (TG/of) and P1626 (A/G) of the CD24 gene and MS, comparing allele and genotype frequencies of patients versus controls. Materials and methods: We analyzed 102 patients with MS and 205 unrelated healthy individuals. DNA was extracted from peripheral blood; and polymorphic regions were amplified by nested PCR. Genotyping was performed by restriction fragments length polymorphisms. Time from disease onset to reach EDSS 6 and time to conversion to the secondary progressive phase (SP) were used as variables of survival. We used the log Rank test for comparison of data (significant p ≤ than 0.05). Results: We found no differences between cases and controls in the frequency of polymorphisms at CD24 gene. 44.6% of patients with the AA genotype (P1626) reached an EDSS of 6 vs 16% of patients with other genotypes (p < 0.001; HR: 3,2, 95% CI: 1.4 to 7.4). 45.8% of patients with the AA genotype reached SPMS vs 16.7% without this genotype (p < 0.001; HR: 3.4; 95% CI: 1.5 to 7.8). Conclusions: This study showed a strong association between the presence of AA genotype in the 1626 polymorphism of the CD24 gene and the risk of disease progression in MS patients. © 2011 Sociedad Neurológica Argentina. Published by Elsevier España, S.L. All rights reserved.


Itzcovich T.,Institute Investigaciones Neurologicas Dr Raul Carrea Fleni | Xi Z.,University of Toronto | Martinetto H.,Institute Investigaciones Neurologicas Dr Raul Carrea Fleni | Chrem-Mendez P.,Institute Investigaciones Neurologicas Dr Raul Carrea Fleni | And 15 more authors.
Neurobiology of Aging | Year: 2016

Pathologic expansion of the G4C2 repeat in C9orf72 is the main genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). To evaluate the frequency of the G4C2 expansion in a Latin American cohort of FTD and ALS patients, we used a 2-step genotyping strategy. For FTD, we observed an overall expansion frequency of 18.2% (6 of 33 unrelated cases). Moreover, the C9orf72 expansion accounted for 37.5% of all familial FTD cases (6 of 16 families). The expansion frequency in sporadic ALS cases was 2% (1 of 47 unrelated patients), whereas we observed the expansion in 1 of 3 families with a positive history for ALS. Overall, the expansion frequency in our FTD group was similar to that reported for patients in Europe and North America, whereas the frequency in our sporadic ALS group was significantly lower. To our knowledge, this is the first report on the frequency of the C9orf72 expansion in a Latin American population. © 2016 Elsevier Inc.

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