Spectrum disorder of RFC1 expansions/CANVAS: Clinical and electrophysiological characterization of a group of 31 patients.

Introduction/objective: Biallelic expansion of the pentanucleotide AAGGG in the RFC1- gene is associated with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). This study aimed to comprehensively characterise this condition by conducting an in-depth neurophysiological examination of afflicted patients.

Methods: A retrospective analysis was conducted in 31 RFC1-positive patients.

Usefulness of somatosensory evoked potentials for monitoring the clinical course of patients with chronic inflammatory demyelinating polyradiculoneuropathy.

Introduction/aims: Somatosensory evoked potentials (SSEPs) are described as a supportive tool to diagnose chronic inflammatory demyelinating polyradiculoneuropathy (CIDP); however, there is a lack of studies determining the effectiveness of SSEPs in monitoring the clinical course of individuals with this condition. The aims of this study are to evaluate the utility of SSEPs in monitoring patients with CIDP and to assess their association with clinical outcomes following immunomodulatory therapy.

Methods: This was a single-center retrospective observational study that included patients who met European Federation of Neurological Societies and Peripheral Nerve Society criteria for CIDP between 2018 and 2023.

Retinal sensitivity and gaze fixation evaluated by microperimetry in subjects with type 2 diabetes: two independent parameters that explore different neuronal circuits.

Background And Aims: Retinal sensitivity (RS) and gaze fixation (GF) assessed by retinal microperimetry are useful and complementary tools for identifying mild cognitive impairment (MCI) in patients with type 2 diabetes (T2D). The hypothesis is that RS and GF examine different neural circuits: RS depends only on the visual pathway while GF reflects white matter complex connectivity networks. The aim of the study is to shed light to this issue by examining the relationship of these two parameters with visual evoked potentials (VEP), the current gold standard to examine the visual pathway.

RFC1 repeat expansions and cerebellar ataxia, neuropathy and vestibular areflexia syndrome: Experience and perspectives from a neuromuscular disorders unit.

Introduction: Pathogenic expansions in RFC1 have been described as a cause of a spectrum of disorders including late-onset ataxia, chronic cough, and cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). Sensory neuronopathy/neuropathy appears to be a major symptom of RFC1-disorder, and RFC1 expansions are common in patients with sensory chronic idiopathic axonal neuropathy or sensory ganglionopathy. We aimed to investigate RFC1 expansions in patients with suspected RFC1-related disease followed-up in a Neuromuscular Diseases Unit, with a particular interest in the involvement of the peripheral nervous system.

[Guillain-Barre syndrome and thrombocytopenia after SARS-CoV-2 vaccination with Moderna. A case report].

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).

An Atypical Presentation of Upper Motor Neuron Predominant Juvenile Amyotrophic Lateral Sclerosis Associated with Gene: A Case Report and Review of the Literature.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that can rarely affect young individuals. Juvenile ALS (JALS) is defined for individuals with an onset of the disease before the age of 25. The contribution of genetics to ALS pathology is a field of growing interest.

[Weakness as a complication of COVID-19 in critically ill patients: clinical features and prognostic factors in a case series].

Introduction: Weakness is a frequent complication in those critically ill due to COVID-19. This study describes its characteristics and the factors that can condition and predict it.

Patients And Methods: We conducted a prospective, descriptive, observational study of patients admitted to the intensive care unit (ICU) due to COVID-19 between April and May 2020 with muscle weakness.

Long-term safety and effectiveness of levodopa-carbidopa intestinal gel infusion.

Introduction: Levodopa-carbidopa intestinal gel (LCIG) infusion has demonstrated to improve motor fluctuations. The aim of this study is to assess the long-term safety and effectiveness of LCIG infusion in advanced Parkinson's disease (PD) patients with motor fluctuations and its effect in nonmotor symptoms.

Methods: Adverse events (AE) and their management, clinical motor, and nonmotor aspects were assessed up to 10 years.

Influence of early neurological complications on clinical outcome following lung transplant.

Background: Neurological complications after lung transplantation are common. The full spectrum of neurological complications and their impact on clinical outcomes has not been extensively studied.

Methods: We investigated the neurological incidence of complications, categorized according to whether they affected the central, peripheral or autonomic nervous systems, in a series of 109 patients undergoing lung transplantation at our center between January 1 2013 and December 31 2014.

Bedside Ultrasound for the Diagnosis of Abnormal Diaphragmatic Motion in Children After Heart Surgery.

Objective: To assess the utility of bedside ultrasound combining B- and M-mode in the diagnosis of abnormal diaphragmatic motion in children after heart surgery.

Design: Prospective post hoc blinded comparison of ultrasound performed by two different intensivists and fluoroscopy results with electromyography.

Setting: Tertiary university hospital.

Study of the prevalence of familial autoimmune myasthenia gravis in a Spanish cohort.

Background: Myasthenia gravis (MG) is an autoimmune disease caused by a failure of neuromuscular transmission. Familial clustering has been reported despiteMG usually manifesting as a sporadic condition presumed not to be inherited. Our study investigated the prevalence of FAMG in a Spanish cohort, characterizing their phenotype,antibody titres and thymus findings.

[Recommendations for the clinical use of motor evoked potentials in multiple sclerosis].

Objective: To establish clinical guidelines for the clinical use and interpretation of motor evoked potentials (MEP) in diagnosing and monitoring patients with multiple sclerosis (MS). Recommendations for MEP use and interpretation will help us rationalise and optimise resources used in MS patient diagnosis and follow up.

Method: We completed an extensive literature review and pooled our own data to produce a consensus statement with recommendations for the clinical use of MEPs in the study of MS.

Ornithine phenylacetate prevents disturbances of motor-evoked potentials induced by intestinal blood in rats with portacaval anastomosis.

Background & Aims: Ornithine phenylacetate (OP) is a new drug that has been proposed for the treatment of hepatic encephalopathy (HE) because it decreases plasma ammonia. We performed a study to assess if OP would impact on neuronal function.

Methods: Motor-evoked potentials (MEP), a surrogate of hepatic encephalopathy, were assessed (without anesthesia) in rats with portacaval anastomosis (PCA) that received gastrointestinal blood (GIB).

Cellular transplants in amyotrophic lateral sclerosis patients: an observational study.

Background Aims: Cytotherapy is a promising option for neurodegenerative disease treatment. Because of the fatal prognosis and imperative need for effective treatment, amyotrophic lateral sclerosis (ALS) patients request this therapy before its effectiveness has been verified. The increase in clinics offering cytotherapies but providing little scientific information has prompted considerable medical tourism.

Investigation of the role of SMN1 and SMN2 haploinsufficiency as a risk factor for Hirayama's disease: clinical, neurophysiological and genetic characteristics in a Spanish series of 13 patients.

Objective: The effect of the number of copies in the SMN1 and SMN2 genes - the most extensively studied susceptibility and modifying genetic factors in adult onset motor neuron diseases - as a genetic risk factor for Hirayama's disease (HirD) has never been studied. The purpose of this study was to investigate the influence of the number of copies of the SMN1/SMN2 genes on the resulting phenotype in 13 HirD Spanish patients.

Patients And Methods: We performed a qualitative and quantitative SMN1/SMN2 gene analysis in 13 unrelated HirD patients.

Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population: should all sporadic ALS cases also be screened for SOD1?

Background: SOD1 gene mutations are the most common identified cause of ALS, accounting for approximately 20% of familial ALS cases and around 4% of sporadic ALS cases. However, the prevalence of SOD1 varies in different ethnic groups. No previous epidemiological studies have been carried out in Catalonia.

A novel thymidine phosphorylase mutation in a Spanish MNGIE patient.

A 29-year-old Spanish man presented with chronic intestinal pseudo-obstruction, progressive external ophthalmoplegia, peripheral neuropathy, and diffuse leukoencephalopathy. This combination of clinical features is characteristic of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Genetic analysis revealed a novel 18-base pair (bp) duplication (5044-5061 dup) in exon 8 of the thymidine phosphorylase (TP) gene.