Institute Investigaciones Neurologicas Dr Raul Carrea Fleni

Buenos Aires, Argentina

Institute Investigaciones Neurologicas Dr Raul Carrea Fleni

Buenos Aires, Argentina
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Gatto E.M.,Fundacion INEBA | Allegri R.F.,Institute Investigaciones Neurologicas Dr Raul Carrea Fleni | Allegri R.F.,CONICET | Allegri R.F.,University la Costa | And 10 more authors.
Neurobiology of Aging | Year: 2017

Frontotemporal lobar degeneration is a neuropathological disorder that causes a variety of clinical syndromes including frontotemporal dementia (FTD), progressive supranuclear palsy, and corticobasal syndrome (CBS). FTD associated with parkinsonism occurs frequently as a result of mutations in the C9orf72 gene and also in the genes coding for the protein associated with microtubule tau (MAPT) and progranulin (GRN) on chromosome 17 (FTDP-17). Herein, we report an Argentinean family, of Basque ancestry, with an extensive family history of behavioral variant of FTD. Twenty-one members over 6 generations composed the pedigree. An extensive neurologic and neurocognitive examination was performed on 2 symptomatic individuals and 3 nonsymptomatic individuals. Two different phenotypes were identified among affected members, CBS in the proband and FTD in his brother. DNA was extracted from blood for these 5 individuals and whole-exome sequencing was performed on 3 of them followed by Sanger sequencing of candidate genes on the other 2. In both affected individuals, a missense mutation (p.P301L; rs63751273) in exon 10 of the MAPT gene (chr17q21.3) was identified. Among MAPT mutations, p.P301L is the most frequently associated to different phenotypes: (1) aggressive, symmetrical, and early-onset Parkinsonism; (2) late parkinsonism associated with FTD; and (3) progressive supranuclear palsy but only exceptionally it is reported associated to CBS. This is the first report of the occurrence of the p.P301L-MAPT mutation in South America and supports the marked phenotypic heterogeneity among members of the same family as previously reported. © 2017


Wilken M.,Institute Investigaciones Neurologicas Dr Raul Carrea Fleni | Ameghino L.,Institute Investigaciones Neurologicas Dr Raul Carrea Fleni | Cammarota A.,Institute Investigaciones Neurologicas Dr Raul Carrea Fleni | Nogues M.A.,Institute Investigaciones Neurologicas Dr Raul Carrea Fleni | And 2 more authors.
Medicina (Argentina) | Year: 2017

Early recognition and prompt specific treatment are crucial factors influencing the outcome of patients with acute encephalitis. The aim of this study was to determine the main causes of acute encephalitis in our population and to find predictors that may lead to specific diagnosis. Adult patients admitted to our hospital with suspected diagnosis of encephalitis in the period 2006-2013 were included. One hundred and five medical records were analyzed. Eighty-two patients with infectious encephalitis were identified (78% of total cases), 53 (65%) men and 29 (35%) women, mean age 47.8 years. The most common microorganisms identified were: HSV-1 (11%), VZV (10%), HSV-2 (5%) and EBV (5%). Twenty-three patients (22% of the series) had non-infectious encephalitis. Headache (p < 0.0001) and fever (p = 0.008) were more frequent in encephalitis of infectious origin. Protein levels and white blood cell counts in the cerebrospinal fluid were significantly higher in patients affected by infectious encephalitis than in those affected by noninfectious encephalitis (OR 95% CI 12.3 [2.9-51.7] and OR 95% CI 7.4 [2-27], respectively). Identifying specific causal agents of acute encephalitis remains a major challenge. Cerebrospinal fluid markers, as well as specific clinical findings, may however contribute to initial differentiation between infectious and noninfectious causes. © 2017, Instituto de Investigaciones Medicas. 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.


PubMed | CONICET, University of Toronto and Institute Investigaciones Neurologicas Dr Raul Carrea Fleni
Type: | Journal: 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.


Gonzalez S.J.,Hospital Italiano Of Buenos Aires | Rojas J.I.,Hospital Italiano Of Buenos Aires | Redal M.A.,Hospital Italiano Of Buenos Aires | Patrucco L.,Hospital Italiano Of Buenos Aires | 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.,Hospital Italiano Of Buenos Aires | Rojas J.I.,Hospital Italiano Of Buenos Aires | Redal M.A.,Hospital Italiano Of Buenos Aires | Patrucco L.,Hospital Italiano Of Buenos Aires | 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.

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