Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease.

INTRODUCTION: Charcot-Marie-Tooth disease (CMT) is classified according to neurophysiological and histological findings, the inheritance pattern, and the underlying genetic defect. The objective of these guidelines is to offer recommendations for the diagnosis, prognosis, follow-up, and treatment of this disease in Spain. MATERIAL AND METHODS: These consensus guidelines were developed through collaboration by a multidisciplinary panel encompassing a broad group of experts on the subject, including neurologists, paediatric neurologists, geneticists, physiatrists, and orthopaedic surgeons. RECOMMENDATIONS: The diagnosis of CMT is clinical, with patients usually presenting a common or classical phenotype. Clinical assessment should be followed by an appropriate neurophysiological study; specific recommendations are established for the parameters that should be included. Genetic diagnosis should be approached sequentially; once PMP22 duplication has been ruled out, if appropriate, a next-generation sequencing study should be considered, taking into account the limitations of the available techniques. To date, no pharmacological disease-modifying treatment is available, but symptomatic management, guided by a multidiciplinary team, is important, as is proper rehabilitation and orthopaedic management. The latter should be initiated early to identify and improve the patient's functional deficits, and should include individualised exercise guidelines, orthotic adaptation, and assessment of conservative surgeries such as tendon transfer. The follow-up of patients with CMT is exclusively clinical, and ancillary testing is not necessary in routine clinical practice.

[Guillain-Barre syndrome and thrombocytopenia after SARS-CoV-2 vaccination with Moderna. A case report]. / Síndrome de Guillain-Barré y trombocitopenia tras la vacunación contra el SARS-CoV-2 con Moderna. Descripción de un caso.

INTRODUCTION: The massive vaccination against the SARS-CoV-2 virus has demonstrated to be one of the major measures for the reduction of the morbidity and mortality that this virus causes. However, during the last months the administration of the vaccine has been also associated with some rare, but life-threatening, adverse effects. CASE REPORT: In this article we describe the case of a patient that developed a Guillain-Barre syndrome and an Idiopathic thrombocytopenic purpura nine days after the vaccination with the third dose for the SARS-CoV-2 virus (Moderna). He had received previously two doses of the AstraZeneca vaccine. Moreover, the patient was positive for auto-antibodies anti-SSA/Ro60 and auto-antibodies IgG anti-GM1 and IgG anti-GM3. DISCUSSION: Even though it is not possible to stablish a clear relation of causality between the administration of the vaccine booster for SARS-CoV-2 and the diseases developed by the patient, the association of two concomitant autoimmune processes is remarkable. As well as the positivity for the auto-antibodies anti-SSA/Ro60, which have been described in the bibliography in cases of SARS-CoV-2 infection.

TITLE: Síndrome de Guillain-Barré y trombocitopenia tras la vacunación contra el SARS-CoV-2 con Moderna. Descripción de un caso.Introducción. La vacunación masiva contra el virus SARS-CoV-2 constituye una de las principales estrategias en la reducción de la morbimortalidad que presenta dicho virus. No obstante, a lo largo de los últimos meses, su administración también se ha relacionado con diversos efectos adversos raros, pero potencialmente graves. Caso clínico. En el presente artículo describimos el caso de un paciente que desarrolló un síndrome de Guillain-Barré y una púrpura trombocitopénica idiopática nueve días después de la vacunación con la tercera dosis contra el virus SARS-CoV-2 (Moderna), con dos dosis previas de AstraZeneca. Adicionalmente, destaca la presencia de positividad para autoanticuerpos anti-SSA/Ro60 y para anticuerpos inmunoglobulina G anti-GM1 e inmunoglobulina G anti-GM3. Conclusión. Aunque no es posible establecer una relación de causalidad entre la administración del booster de la vacuna y el desarrollo de la enfermedad, es destacable la asociación de dos procesos autoinmunes concomitantes, junto con la positividad en los autoanticuerpos anti-SSA/Ro60, lo cual se ha descrito en la bibliografía en casos de infección del virus SARS-CoV-2.

[Prognostic and monitoring biomarkers in chronic inflammatory demyelinating polyneuropathy]. / Biomarcadores pronósticos y de seguimiento en la polineuropatía desmielinizante inflamatoria crónica.

INTRODUCTION: Chronic inflammatory demyelinating polyneuropathy (CIDP) is a clinical entity with significant phenotypic variability both in its onset and in its course. Therefore, it is important to have objective biomarkers with which to monitor its evolution. In this review we present clinical, neurophysiological, neuroimaging, blood and cerebrospinal fluid (CSF) biomarkers for the monitoring and prognosis of CIDP. DEVELOPMENT: Different clinical tools have been developed and validated to monitor CIDP by assessing strength and disability. However, the best parameter for monitoring gait remains to be determined. Monitoring by neurophysiological examination is also widespread and the amplitude of the compound muscle action potential is the most commonly used. More recently, the Motor Unit Number Index sum score has been developed, which is an accurate and reproducible technique. The role of nerve ultrasonography is under development and a correlation between clinical evolution and ultrasound findings has been described. Multiple biomarkers have been described in blood and CSF, including antinodal/paranodal antibodies, neurofilament light chain, serum immunoglobulin G levels and CSF sphingomyelin levels. Genetic variants and cytokines associated with prognosis and response to treatment have also been described. CONCLUSIONS: One of the most important challenges in the management of CIDP is the monitoring of clinical changes after treatment initiation. The combination of biomarkers that allow an accurate understanding of the disease is crucial for the optimal management of CIDP.

TITLE: Biomarcadores pronósticos y de seguimiento en la polineuropatía desmielinizante inflamatoria crónica.Introducción. La polineuropatía desmielinizante inflamatoria crónica (PDIC) es una entidad clínica con una variabilidad fenotípica muy importante tanto en el inicio como en la evolución. Por lo tanto, es importante disponer de biomarcadores objetivos para monitorizar la evolución. En esta revisión presentamos los biomarcadores clínicos, neurofisiológicos, de neuroimagen, y en la sangre y el líquido cefalorraquídeo (LCR) para el seguimiento y el pronóstico de la PDIC. Desarrollo. Se han desarrollado diferentes herramientas clínicas validadas para el seguimiento de la PDIC mediante la evaluación de la fuerza y la discapacidad. No obstante, falta determinar el mejor parámetro para monitorizar la marcha. El seguimiento mediante examen neurofisiológico también está ampliamente extendido, y la amplitud del compound muscle action potential es lo más utilizado. Más recientemente, se ha desarrollado la Motor Unit Number Index sum score, que es una técnica precisa y reproducible. El papel de la ecografía de nervio se encuentra en desarrollo, y se ha descrito correlación entre la evolución clínica y los hallazgos por ecografía. Se han descrito múltiples biomarcadores en sangre y el LCR, entre los que destacan los anticuerpos antinodales/paranodales, los neurofilamentos de cadena ligera, los niveles de inmunoglobulina G en el suero y los niveles de esfingomielina en el LCR. Asimismo, se han descrito variantes genéticas y citocinas relacionadas con el pronóstico y la respuesta a los tratamientos. Conclusiones. Uno de los retos más importante en el manejo de la PDIC es la monitorización de los cambios clínicos tras el inicio del tratamiento. La combinación de biomarcadores que permitan una comprensión exacta de la enfermedad es crucial para el manejo óptimo de la PDIC.

Cognitive profile following COVID-19 infection: Clinical predictors leading to neuropsychological impairment.

BACKGROUND: Cognitive manifestations associated with the severity of a novel coronavirus (COVID-19) infection are unknown. An early detection of neuropsychological manifestations could modify the risk of subsequent irreversible impairment and further neurocognitive decline. METHODS: In our single-center cohort study, we included all consecutive adult patients, aged between 20 and 60 years old with confirmed COVID-19 infection. Neuropsychological assessment was performed by the same trained neuropsychologist from April, 22nd through June 16th, 2020. Patients with previous known cognitive impairment, any central nervous system or psychiatric disease were excluded. Demographic, clinical, pharmacological and laboratory data were extracted from medical records. RESULTS: Thirty-five patients met inclusion criteria and were included in the study. Patients presenting headache, anosmia, dysgeusia, diarrhea and those who required oxygen therapy had lower scores in memory, attention and executive function subtests as compared to asymptomatic patients. Patients with headache and clinical hypoxia scored lower in the global Cognitive Index (P â€‹= â€‹0.002, P â€‹= â€‹0.010). A T score lower than 30 was observed in memory domains, attention and semantic fluency (2 [5.7%]) in working memory and mental flexibility (3 [8.6%]) and in phonetic fluency (4 [11.4%]). Higher scores in anxiety and depression (P â€‹= â€‹0.047, P â€‹= â€‹0.008) were found in patients with cognitive complaints. CONCLUSIONS: In our cohort of COVID-19 patients neurologic manifestations were frequent, including cognitive impairment. Neurological symptoms during infection, diarrhea and oxygen therapy were risk factors for neurocognitive impairment. Cognitive complaints were associated with anxiety and depression.

Determination of the object surface function by structured light: application to the study of spinal deformities.

The projection of structured light is a technique frequently used to determine the surface shape of an object. In this paper, a new procedure is described that efficiently resolves the correspondence between the knots of the projected grid and those obtained on the object when the projection is made. The method is based on the use of three images of the projected grid. In two of them the grid is projected over a flat surface placed, respectively, before and behind the object; both images are used for calibration. In the third image the grid is projected over the object. It is not reliant on accurate determination of the camera and projector pair relative to the grid and object. Once the method is calibrated, we can obtain the surface function by just analysing the projected grid on the object. The procedure is especially suitable for the study of objects without discontinuities or large depth gradients. It can be employed for determining, in a non-invasive way, the patient's back surface function. Symmetry differences permit a quantitative diagnosis of spinal deformities such as scoliosis.