Elena Cortés-Vicente

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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(More)
BACKGROUND The capsular warning syndrome is defined as recurrent transient lacunar syndromes that usually precede a capsular infarction. Several aspects regarding the clinical management are controversial. We report the clinical and radiological characteristics of a multicenter series of patients with capsular warning syndrome, as well as their functional(More)
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%(More)
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(More)
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(More)
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(More)
BACKGROUND We report a case of stroke due to stenosis caused by a myxoma in the common carotid artery with no evidence of a cardiac origin. Only 1 such case has been reported previously in the literature. METHODS A previously healthy 37-year-old woman presented with repeated episodes of acute focal deficits together with motor, sensory, and language(More)
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(More)
BACKGROUND AND PURPOSE The incidence, underlying physiopathology, features and association with lesion topography of visual hallucinations in acute stroke have scarcely been investigated. METHODS Patients with a diagnosis of acute stroke (ischaemic or haemorrhagic) in any vascular territory, admitted within 24 h after the onset of symptoms, were(More)
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(More)