Elena Cortés-Vicente
Autonomous University of Barcelona
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Featured researches published by Elena Cortés-Vicente.
JAMA Neurology | 2016
Elena Cortés-Vicente; Eduard Gallardo; Maria Angeles Martínez; Jordi Díaz-Manera; Luis Querol; Ricard Rojas-García; Isabel Illa
IMPORTANCE Double-seronegative myasthenia gravis (dSNMG) includes patients with myasthenia gravis (MG) without detectable antibodies to the nicotinic acetylcholine receptor (AChR) or to muscle-specific tyrosine kinase (MuSK). The lack of a biomarker hinders the diagnosis and clinical management in these patients. Cortactin, a protein acting downstream from agrin/low-density lipoprotein receptor-related protein 4 (LRP4)/MuSK, has been described as an antigen in dSNMG. OBJECTIVE To describe the frequency and clinical features of patients with dSNMG who have cortactin antibodies. DESIGN, SETTING, AND PARTICIPANTS A retrospective cross-sectional study was conducted at Hospital de la Santa Creu i Sant Pau, an institutional practice referral center in Barcelona, Spain, between May 1, 2015, and November 30, 2015. We included 250 patients with a definitive diagnosis of MG with available serum samples at the time of diagnosis. Descriptive and comparative data analyses were performed. EXPOSURES Cortactin antibodies were measured by enzyme-linked immunosorbent assay and Western blot; AChR, MuSK, and anti-striated muscle antibodies were detected using a standard method; and LRP4 antibodies were tested using a cell-based assay. MAIN OUTCOMES AND MEASURES The primary outcome was the frequency of patients with dSNMG who have cortactin antibodies. Secondary outcomes were demographic, clinical, neurophysiological, and laboratory data. RESULTS Of 250 patients (mean [SD] age at onset, 49.7 [21.2] years; 56% female), 38 (15.2%) had dSNMG, 201 (80.4%) had MG with AChR antibodies, and 11 (4.4%) had MG with MuSK antibodies. Cortactin antibodies were identified in 28 patients with MG: 9 of 38 (23.7%) who had dSNMG, 19 of 201 (9.5%) who had MG with AChR antibodies (significantly lower than those with dSNMG: 9.5% vs 23.7%; P = .02), and 0 of 11 who had MG with MuSK antibodies; 0 of 29 controls had cortactin antibodies. At onset, among the 9 patients with dSNMG and cortactin antibodies, 6 had ocular MG and 3 had Myasthenia Gravis Foundation of America clinical classification IIA. Two patients with ocular MG developed generalized MG. The group with dSNMG and cortactin antibodies, compared with those who had MG with AChR antibodies, more frequently had mild forms at onset (100.0% vs 62.7%; P = .03), had fewer bulbar signs at maximal worsening (0% vs 41.3%; P = .01), and were younger at onset (median [interquartile range], 34.9 [9.5] vs 53.9 [38.5] years; P = .03); the group with dSNMG and cortactin antibodies also more frequently had ocular MG at onset than those with MG and AChR antibodies, although the difference was not statistically significant (66.7% vs 40.8%; P = .17). Of 17 patients with ocular dSNMG, 4 (23.5%) had antibodies to cortactin. CONCLUSIONS AND RELEVANCE In this study, patients with cortactin antibodies and dSNMG had an ocular or mild generalized phenotype of MG. Including the detection of cortactin antibodies in the routine diagnosis of dSNMG may be helpful in ocular MG.
Amyotrophic Lateral Sclerosis | 2016
Josep Maria Aragonès; Jacint Altimiras; Roura-Poch P; Elvira Homs; Lorena Bajo; Mónica Povedano; Elena Cortés-Vicente; Isabel Illa; Ammar Al-Chalabi; Ricard Rojas-García
Abstract Our objective was to determine the age-specific incidence and clinical-epidemiological characteristics of an amyotrophic lateral sclerosis (ALS) cohort of patients in Catalonia (Spain). New cases diagnosed between 1 January 2004 and 31 December 2013 were 41 (20 males and 21 females), with an annual crude incidence rate of 2.7 per 100,000 person-years (95% CI 1.90–3.59). The incidence rate increased with age reaching a peak in the age group of 70–79 years. There was a non-significant decrease in the incidence rate in the group of patients over 80 years (p-value = 0.75) at 17.99 per 100,000 person years (95% CI 7.81–28.17). The percentage of patients over 80 years of age was 29.3% and over age 85 years was 9.8%. The prevalence rate at the end of the study period was 8.38/100,000 of the total population. Mean age at symptom onset was 76.0 years. Onset of symptoms was bulbar or generalized in 36.6% of cases. In conclusion, ALS incidence in Osona is within the range of other countries across Europe. Our results suggest that the age-specific incidence rate of ALS increases with age through the oldest age groups suggesting an age-risk effect to develop the disease.
Journal of Neurology, Neurosurgery, and Psychiatry | 2018
Oriol Dols-Icardo; Alberto García-Redondo; Ricardo Rojas-García; Daniel Borrego-Hernández; Ignacio Illán-Gala; José Luís Muñoz-Blanco; Alberto Rábano; Laura Cervera-Carles; Alexandra Juárez-Rufián; Nino Spataro; Noemi de Luna; Lucía Galán; Elena Cortés-Vicente; Juan Fortea; Rafael Blesa; Oriol Grau-Rivera; Alberto Lleó; Jesús Esteban-Pérez; Ellen Gelpi; Jordi Clarimón
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are part of a clinical, pathological and genetic continuum. Objectives The purpose of the present study was to assess the mutation burden that is present in patients with concurrent ALS and FTD (ALS/FTD) not carrying the chromosome 9 open reading frame 72 (C9orf72) hexanucleotide repeat expansion, the most important genetic cause in both diseases. Methods From an initial group of 973 patients with ALS, we retrospectively selected those patients fulfilling diagnostic criteria of concomitant ALS and FTD lacking the repeat expansion mutation in C9orf72. Our final study group consisted of 54 patients clinically diagnosed with ALS/FTD (16 with available postmortem neuropathological diagnosis). Data from whole exome sequencing were used to screen for mutations in known ALS and/or FTD genes. Results We identified 11 patients carrying a probable pathogenic mutation, representing an overall mutation frequency of 20.4%. TBK1 was the most important genetic cause of ALS/FTD (n=5; 9.3%). The second most common mutated gene was SQSTM1, with three mutation carriers (one of them also harboured a TBK1 mutation). We also detected probable pathogenic genetic alterations in TAF15, VCP and TARDBP and possible pathogenic mutations in FIG4 and ERBB4. Conclusion Our results indicate a high genetic burden underlying the co-occurrence of ALS and FTD and expand the phenotype associated with TAF15, FIG4 and ERBB4 to FTD. A systematic screening of ALS and FTD genes could be indicated in patients manifesting both diseases without the C9orf72 expansion mutation, regardless of family history of disease.
Amyotrophic Lateral Sclerosis | 2017
Elena Cortés-Vicente; Jesús Pradas; Juan Marín-lahoz; Noemi de Luna; Jordi Clarimón; Janina Turon-Sans; Ellen Gelpi; Jordi Díaz-Manera; Isabel Illa; Ricard Rojas-García
Abstract Objective: To describe the frequency and clinical characteristics of patients referred to a tertiary neuromuscular clinic as having amyotrophic lateral sclerosis (ALS) but who were re-diagnosed as having an ALS mimic syndrome, and to identify the reasons that led to the revision of the diagnosis. Methods: We reviewed the final diagnosis of all patients prospectively registered in the Sant Pau-MND register from 1 January 2004 to 31 December 2015. A detailed clinical evaluation and a clinically-guided electrophysiological study were performed at first evaluation. Results: Twenty of 314 (6.4%) patients included were re-diagnosed as having a condition other than ALS, in 18 cases already at first evaluation. An alternative specific diagnosis was identified in 17 of those 20, consisting of a wide range of conditions. The main finding leading to an alternative diagnosis was the result of the electrophysiological study. Fifty per cent did not fulfil the El Escorial revised criteria (EECr) for ALS. The most common clinical phenotype at onset in patients with ALS mimic syndromes was progressive muscular atrophy (PMA). Conclusions: Misdiagnosing ALS is still a common problem. Early identification of ALS mimic syndromes is possible based on atypical clinical features and a clinically-guided electrophysiological study. Patients should be attended in specialised centres. The application of EECr helps to identify ALS misdiagnoses.
Annals of the New York Academy of Sciences | 2018
Isabel Illa; Elena Cortés-Vicente; Maria Angeles Martínez; Eduard Gallardo
Patients with myasthenia gravis (MG) without antibodies to the acetylcholine receptor (AChR) or muscle‐specific tyrosine kinase (MuSK) have been classified as having double‐seronegative myasthenia gravis (dSNMG). We used the sera from six dSNMG patients with positive immunohistochemistry assays in a protein array to screen reactivity with 9000 human proteins. We identified cortactin, an intracellular protein that interacts with agrin/MuSK favoring AChR aggregation, as a new antigen in dSNMG. We then designed an in‐house enzyme‐linked immunosorbent assay as a screening assay and confirmed these results by western blot. We found that 19.7% of dSNMG patients had anti‐cortactin antibodies. In contrast, patients with AChR+ MG or other autoimmune disorders and healthy controls were positive at significantly lower rates. Five percent of healthy controls were positive. In a recent study, we screened sera from 250 patients (AChR+ MG, MuSK+ MG, dSNMG) and 29 healthy controls. Cortactin antibodies were identified in 23.7% of dSNMG and 9.5% AChR+ MG patients (P = 0.02). None of the MuSK+ MG patients, patients with other autoimmune disorders, or healthy controls had antibodies against cortactin. Patients with dSNMG cortactin+ MG were negative for anti‐striated muscle and anti‐LRP4 antibodies. Patients with dSNMG cortactin+ MG presented ocular or mild generalized MG without bulbar symptoms. We conclude that cortactin autoantibodies are biomarkers of MG that, when present, suggest that the disease will be mild.
Journal of neuromuscular diseases | 2016
Simão Cruz; S. Figueroa-Bonaparte; Eduard Gallardo; Alix de Becdelièvre; C. Gartioux; Valérie Allamand; Patricia Piñol; Maria Angels Rodriguez Garcia; Cecilia Jiménez-Mallebriera; Jaume Llauger; Lidia González-Rodríguez; Elena Cortés-Vicente; Isabel Illa; Jordi Díaz-Manera
The classical phenotypes of collagen VI-associated myopathies are well described. Little is known, however, about the progression of patients at the mildest end of the clinical spectrum. In this report, we describe the clinical findings and the results of MRI, muscle biopsy, collagen VI expression in cultured skin fibroblasts and genetic tests of a series of patients with Bethlem myopathy. Our series highlights the existence of mild presentations of this disorder that progresses only slightly and can easily be overlooked. Analysis of the genetic studies suggests that missense mutations can be associated to a milder clinical presentation. Muscle MRI is extremely useful as it shows a pathognomonic pattern in most patients, especially those with some degree of muscle weakness.
Amyloid | 2016
Simão Cruz; Elena Cortés-Vicente; Isabel Illa; Ricardo Rojas-García
Transthyretin-related hereditary amyloid polyneuropathy presenting with large fibre involvement and cardiomyopathy Simão Cruz, Elena Cortes-Vicente, Isabel Illa & Ricardo Rojas-Garcia To cite this article: Simão Cruz, Elena Cortes-Vicente, Isabel Illa & Ricardo Rojas-Garcia (2016): Transthyretin-related hereditary amyloid polyneuropathy presenting with large fibre involvement and cardiomyopathy, Amyloid, DOI: 10.3109/13506129.2015.1127223 To link to this article: http://dx.doi.org/10.3109/13506129.2015.1127223
Dementia and Geriatric Cognitive Disorders | 2018
Elena Cortés-Vicente; Janina Turon-Sans; Ellen Gelpi; Jordi Clarimón; Sergi Borrego-Écija; Oriol Dols-Icardo; Ignacio Illán-Gala; Alberto Lleó; Isabel Illa; Rafael Blesa; Ammar Al-Chalabi; Ricard Rojas-García
Aim: To determine the motor phenotype and outcome in a clinically ascertained group of patients with motor neuron disease (MND) and frontotemporal dementia (FTD). Methods: This is an observational retrospective clinical study of patients fulfilling the clinical criteria for MND-FTD. A contemporary series of patients with amyotrophic lateral sclerosis (ALS) without dementia were included for comparison. Demographic, clinical, genetic, and neuropathological data were collected. A descriptive and comparative data analysis was performed. Results: We identified 22 patients with MND-FTD. Selective distal upper limb muscle weakness and atrophy with non-significant lower limb weakness during follow-up was the most frequent motor pattern, present in 18 patients – in 15 of them associated with severe dysphagia. Aspiration pneumonia was the most common cause of death (12/19; 63%) despite gastrostomy. One-third of the patients did not develop upper motor neuron dysfunction. When compared to classic ALS without dementia (n = 162), these features were significantly different. A neuropathological examination was performed on 7 patients, and it confirmed the presence of MND with TDP43 protein aggregates in all patients. Conclusions: The MND-FTD patients frequently displayed a distinctive motor pattern characterized by weakness and atrophy in distal upper limb muscles and dysphagia, with no or little spreading to other regions. These features may help to define specific subgroups of patients, which is important with regard to clinical management, outcome, and research.
Annals of clinical and translational neurology | 2018
Elena Cortés-Vicente; Ricard Rojas-García; Jordi Díaz-Manera; Lluis Querol; Carlos Casasnovas; Antonio Guerrero-Sola; José Luís Muñoz-Blanco; José Eulalio Bárcena-Llona; Celedonio Márquez-Infante; Julio Pardo; Eva María Martínez-Fernández; Mercedes Usón; Pedro Oliva-Nacarino; Teresa Sevilla; Isabel Illa
To evaluate whether the clinical benefit and relapse rates in anti‐muscle‐specific kinase (MuSK) myasthenia gravis (MG) differ depending on the protocol of rituximab followed.
Scientific Reports | 2017
Luis Querol; Ana Siles; Roser Alba-Rovira; Agustín Jáuregui; Jérôme Devaux; Catherine Faivre-Sarrailh; Josefa Araque; Ricard Rojas-García; Jordi Díaz-Manera; Elena Cortés-Vicente; Gisela Nogales-Gadea; Miquel Navas-Madroñal; Eduard Gallardo; Isabel Illa
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a heterogeneous disease in which diverse autoantibodies have been described but systematic screening has never been performed. Detection of CIDP-specific antibodies may be clinically useful. We developed a screening protocol to uncover novel reactivities in CIDP. Sixty-five CIDP patients and 28 controls were included in our study. Three patients (4.6%) had antibodies against neurofascin 155, four (6.2%) against contactin-1 and one (1.5%) against the contactin-1/contactin-associated protein-1 complex. Eleven (18.6%) patients showed anti-ganglioside antibodies, and one (1.6%) antibodies against peripheral myelin protein 2. No antibodies against myelin protein zero, contactin-2/contactin-associated protein-2 complex, neuronal cell adhesion molecule, gliomedin or the voltage-gated sodium channel were detected. In IgG experiments, three patients (5.3%) showed a weak reactivity against motor neurons; 14 (24.6%) reacted against DRG neurons, four of them strongly (7.0%), and seven (12.3%) reacted against Schwann cells, three of them strongly (5.3%). In IgM experiments, six patients (10.7%) reacted against DRG neurons, while three (5.4%) reacted against Schwann cells. However, results were not statistically significant when compared to controls. Immunoprecipitation experiments identified CD9 and L1CAM as potential antigens, but reactivity could not be confirmed with cell-based assays. In summary, we describe a diverse autoantibody repertoire in CIDP patients, reinforcing the hypothesis of CIDP’s pathophysiological heterogeneity.