Red flags in patients with hereditary transthyretin amyloidosis at diagnosis in a non-endemic area of Spain.

Introduction: Hereditary transthyretin (hATTR) amyloidosis with polyneuropathy is a rare multisystemic disease characterised by onset during adulthood and associated with poor prognosis if untreated. A set of signs and symptoms, commonly known as "red flags," have been proposed to assist in early detection of the disease; presence of red flags may suggest underlying hATTR amyloidosis in patients with progressive sensorimotor polyneuropathy.

Material And Methods: We analysed the frequency of red flags at the time of diagnosis in 30 patients with hATTR amyloidosis in a non-endemic area of Spain; onset was late in the majority of patients.

Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome.

Objective: To describe the clinical characteristics and outcomes in patients with refractory myasthenia gravis (MG) and to determine the effectiveness and side effects of the drugs used for their treatment.

Methods: This observational retrospective cross-sectional multicenter study was based on data from the Spanish MG Registry (NMD-ES). Patients were considered refractory when their MG Foundation of America post-interventional status (MGFA-PIS) was unchanged or worse after corticosteroids and two or more other immunosuppressive agents.

Red flags in patients with hereditary transthyretin amyloidosis at diagnosis in a non-endemic area of Spain.

Introduction: Hereditary transthyretin (hATTR) amyloidosis with polyneuropathy is a rare multisystemic disease characterised by onset during adulthood and associated with poor prognosis if untreated. A set of signs and symptoms, commonly known as "red flags," have been proposed to assist in early detection of the disease; presence of red flags may suggest underlying hATTR amyloidosis in patients with progressive sensorimotor polyneuropathy.

Material And Methods: We analysed the frequency of red flags at the time of diagnosis in 30 patients with hATTR amyloidosis in a non-endemic area of Spain; onset was late in the majority of patients.

Management of neurological care during the COVID-19 pandemic.

Introduction: The COVID-19 epidemic has led to the need for unprecedented decisions to be made to maintain the provision of neurological care. This article addresses operational decision-making during the epidemic.

Development: We report the measures taken, including the preparation of a functional reorganisation plan, strategies for hospitalisation and emergency management, the use of telephone consultations to maintain neurological care, provision of care at a unit outside the hospital for priority patients, decisions about complementary testing and periodic in-hospital treatments, and the use of a specific telephone service to prioritise patients with epileptic seizures.

Clinical and therapeutic features of myasthenia gravis in adults based on age at onset.

Objective: To describe the characteristics of patients with very-late-onset myasthenia gravis (MG).

Methods: This observational cross-sectional multicenter study was based on information in the neurologist-driven Spanish Registry of Neuromuscular Diseases (NMD-ES). All patients were >18 years of age at onset of MG and onset occurred between 2000 and 2016 in all cases.

Notch Signalling in the Hippocampus of Patients With Motor Neuron Disease.

Introduction: The Notch signalling pathway regulates neuronal survival. It has some similarities with the APP signalling pathway, and competes with the latter for α- and γ-secretase proteolytic complexes. The objective of this study was to study the Notch signalling pathway in the hippocampi of patients with motor neuron disease.

The impact of rituximab infusion protocol on the long-term outcome in anti-MuSK myasthenia gravis.

Objective: 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.

Methods: This retrospective multicentre study in patients with MuSK MG compared three rituximab protocols in terms of clinical status, relapse, changes in treatment, and adverse side effects. The primary effectiveness endpoint was clinical relapse requiring a further infusion of rituximab.

Cerebrospinal fluid cytotoxicity does not affect survival in amyotrophic lateral sclerosis.

Objectives: Cerebrospinal fluid (CSF) from some patients with amyotrophic lateral sclerosis (ALS) has been demonstrated to significantly reduce the neuronal viability of primary cell cultures of motor neurons. We aimed to study the potential clinical consequences associated with the cytotoxicity of CSF in a cohort of patients with ALS.

Methods: We collected CSF from thirty-one patients with ALS.

Immununochemical Markers of the Amyloid Cascade in the Hippocampus in Motor Neuron Diseases.

Background: Several findings suggest that the amyloid precursor protein (APP) and the amyloid cascade may play a role in motor neuron disease (MND).

Objective: Considering that dementia is one of the most frequent non-motor symptoms in amyotrophic lateral sclerosis (ALS) and that hippocampus is one of the brain areas with greater presence of amyloid-related changes in neurodegenerative diseases, our aim was to analyze the molecular markers of the amyloid cascade of APP in pathology studies of the hippocampus of autopsied patients with ALS and ALS-frontotemporal dementia (FTD).

Methods: We included nine patients with MND and four controls.

Histological changes in the rat brain and spinal cord following prolonged intracerebroventricular infusion of cerebrospinal fluid from amyotrophic lateral sclerosis patients are similar to those caused by the disease.

Introduction: Cerebrospinal fluid (CSF) from amyotrophic lateral sclerosis (ALS) patients induces cytotoxic effects in in vitro cultured motor neurons.

Material And Methods: We selected CSF with previously reported cytotoxic effects from 32 ALS patients. Twenty-eight adult male rats were intracerebroventricularly implanted with osmotic mini-pumps and divided into 3 groups: 9 rats injected with CSF from non-ALS patients, 15 rats injected with cytotoxic ALS-CSF, and 4 rats injected with a physiological saline solution.

Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment.

Aims: Patients with Fabry disease (FD) characteristically develop peripheral neuropathy at an early age, with pain being a crucial symptom of underlying pathology. However, the diagnosis of pain is challenging due to the heterogeneous and nonspecific symptoms. Practical guidance on the diagnosis and management of pain in FD is needed.

Cellular changes in motor neuron cell culture produced by cytotoxic cerebrospinal fluid from patients with amyotrophic lateral sclerosis.

Introduction: The neurotoxic effects of cerebrospinal fluid (CSF) from patients with amyotrophic lateral sclerosis (ALS) have been reported by various authors who have attributed this neurotoxicity to the glutamate in CSF-ALS.

Material And Methods: Cultures of rat embryonic cortical neurons were exposed to CSF from ALS patients during an incubation period of 24 hours. Optical microscopy was used to compare cellular changes to those elicited by exposure to 100μm glutamate, and confocal microscopy was used to evaluate immunohistochemistry for caspase-3, TNFα, and peripherin.

[Cell therapy in amyotrophic lateral sclerosis: science and controversy].

Stem cell therapy is seen as a possible alternative for the treatment of different degenerative diseases, among which includes amyotrophic lateral sclerosis (ALS). Despite there being basic research works with this therapy in ALS, the mechanism of action of the implanted cells are still unclear. It is also unclear which type of cells to use (bone marrow, fat, dental pulp, etc.

Serum levels of coenzyme Q10 in patients with amyotrophic lateral sclerosis.

To elucidate whether serum coenzyme Q10 levels are related with the risk for amyotrophic lateral sclerosis (ALS), we compared serum levels of coenzyme Q10 and the coenzyme Q10/cholesterol ratio, in 30 patients with ALS and 42 matched controls using a high performance liquid chromatography technique. The mean serum coenzyme Q10 levels and the coenzyme Q10/cholesterol ratio did not differ significantly between the 2 study groups. These values were not influenced by the clinical form (spinal vs.

Serum levels of beta-carotene, alpha-carotene, and vitamin A in patients with amyotrophic lateral sclerosis.

To elucidate whether serum alpha and beta-carotene and retinol levels are related with the risk for amyotrophic lateral sclerosis (ALS), we compared serum levels of alpha-carotene, beta-carotene, and retinol (vitamin A), measured by HPLC, in 40 patients with amyotrophic lateral sclerosis (ALS) and 87 matched controls using an isocratic high performance liquid chromatography technique. The mean serum alpha and beta-carotene, and retinol levels did not differ significantly between the 2 study groups. These values were not influenced by the clinical form (spinal vs bulbar) of ALS, and they did not correlate with age, age at onset, and duration of the disease.

Cerebrospinal fluid levels of alpha-tocopherol in amyotrophic lateral sclerosis.

We compared CSF and serum levels, and the CSF/serum ratio of alpha-tocopherol (vitamin E), measured by HPLC, in 30 patients with sporadic amyotrophic lateral sclerosis (SALS) and 78 matched controls. The mean CSF and serum vitamin E levels did not differ significantly between the 2 study groups. These values were not influenced by the clinical form (spinal versus bulbar) of SALS.

[Toxoplasmosis of the central nervous system in immunodepressed patients. Our experience].

Seven patients carriers of a disease capable of provoking immunodeficiency (six of them suffering AIDS and one case of Hodgkin type lymphoma) are reported. All of them presented neurological complications consisting of toxoplasma Gondii infection of the Central Nervous System. We summarize their evolution and the diagnostic and therapeutical approaches.