Anti-LGI1 encephalitis and Langerhans cell histiocytosis: Two associated entities? A case report.

Autoimmune encephalitis (AE) is an immune-mediated condition that induces brain inflammation due to several neural-specific autoantibodies. The main triggering and predisposing factors are infections, genetics, the use of immune checkpoint inhibitors and tumors. We report a case of a 57-year-old male with a biopsy-confirmed Langerhans cell histiocytosis (LCH) and a concomitant anti-LGI1 encephalitis discussing a possible relationship in the pathogenesis of these phenomena.

High-resolution ultrasound and superb microvascular imaging findings in a case of post-COVID-19 vaccine parsonage-turner syndrome with multiple nerves involvement.

Parsonage-Turner syndrome (PTS) is an idiopathic condition that may be triggered by vaccination against SARS-CoV-2. High-resolution ultrasound can support the diagnosis and monitoring of PTS patients by demonstrating specific nerve abnormalities. The recently implemented superb microvascular imaging technology can help stratify the prognosis of these patients, with the potential to contribute to the clinical management of PTS.

Psychological resilience is protective against cognitive deterioration in motor neuron diseases.

Objectives: Recent studies suggest that psychological resilience (PR) is associated with more well-preserved cognition in healthy subjects (HS), but an investigation of such phenomenon in patients with motor neuron diseases (MNDs) is still lacking. The aim of our study was therefore to evaluate PR and its relationship with baseline cognitive/behavioral and mood symptoms, as well as longitudinal cognitive functioning, in MNDs.

Methods: 94 MND patients and 87 demographically matched HS were enrolled.

Dog-assisted physiotherapy in amyotrophic lateral sclerosis: a randomized controlled pilot study.

Background: Animal-assisted therapy (AAT) is an intervention in which the animal acts as a co-therapist. It has been mainly used in the context of patients with dementia, showing positive effects on psychological symptoms, but its potential as a physiotherapy treatment for patients with neuromuscular disorders, amyotrophic lateral sclerosis (ALS) in particular, has not yet been investigated.

Aim: The aim of the study was to evaluate the impact of AAT, specifically of dog-assisted therapy, on motor functions and psychological status in patients with ALS.

High-resolution ultrasound and magnetic resonance imaging of ulnar nerve neuropathy in the distal Guyon tunnel.

Objective: The aim of the present study is to describe the ultrasound (US) and magnetic resonance imaging (MRI) findings in patients with neuropathies affecting the deep (DB) and superficial (SB) branches of the Ulnar nerve (UN) and to investigate the potential role of imaging modalities in the diagnostic workup of these conditions.

Materials And Methods: We screened our institutional imaging database to identify patients with a diagnosis of UN mononeuropathy, and among them, we reviewed the cases where US disclosed pathological findings affecting the UN terminal divisions. In this latter subgroup, we retrieved available data on MRI and electrodiagnostic tests performed by the patients during the diagnostic workup.

Case report: Episodic ataxia without ataxia?

Hereditary myopathies represent a clinically and genetically heterogeneous group of neuromuscular disorders, characterized by highly variable clinical presentations and frequently overlapping phenotypes with other neuromuscular disorders, likely influenced by genetic and environmental modifiers. Genetic testing is often challenging due to ambiguous clinical diagnosis. Here, we present the case of a family with clinical and Electromyography (EMG) features resembling a myotonia-like disorder in which Whole Exome Sequencing (WES) analysis revealed the co-segregation of two rare missense variants in and , genes previously associated with episodic ataxia 8 (EA8).

Tagging EEG features within exam reports to quickly generate databases for research purposes.

Objective: assess the effectiveness of a new method for classifying EEG recording features through the use of tags within reports. We present feature prevalence in a sample of patients with toxic-metabolic encephalopathy and discuss the advantages of this approach over existing classification systems.

Methods: during EEG report creation, tags reflecting background activity, epileptiform features and periodic discharges were selected according to the findings of each recording.

Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: a ten year follow up study.

Objective: This article presents an updated analysis of the LIGALS register, a prospective study conducted over a ten-year period (2009-2018) in Liguria, Italy, aimed at evaluating the incidence, prevalence, clinical presentation, and management of amyotrophic lateral sclerosis (ALS).

Methods: We calculated the mean annual crude incidence rate of ALS, assessed the point prevalence of ALS on January 1, 2018, and analyzed demographic factors, clinical characteristics, and clinical management strategies. Data analysis included Cox regression analysis to identify predictors of survival.

High-resolution ultrasound of peripheral neuropathies in rheumatological patients: An overview of clinical applications and imaging findings.

Peripheral neuropathies are surprisingly common and can be associated with a number of conditions, including rheumatological diseases. Whether the co-existence of peripheral neuropathies with rheumatological disorders is coincidental or related to a common pathogenic mechanism, these disabling conditions can affect the outcome of rheumatological patients and should be targeted with specific treatment. The clinical presentation of peripheral neuropathy can be multifaceted and difficult to recognize in polysymptomatic patients.

MND Phenotypes Differentiation: The Role of Multimodal Characterization at the Time of Diagnosis.

Pure/predominant upper motor neuron (pUMN) and lower motor neuron (pLMN) diseases have significantly better prognosis compared to amyotrophic lateral sclerosis (ALS), but their early differentiation is often challenging. We therefore tested whether a multimodal characterization approach embedding clinical, cognitive/behavioral, genetic, and neurophysiological data may improve the differentiation of pUMN and pLMN from ALS already by the time of diagnosis. Dunn’s and chi-squared tests were used to compare data from 41 ALS, 34 pLMN, and 19 pUMN cases with diagnoses confirmed throughout a 2-year observation period.

The value of EEG attenuation in the prediction of outcome in COVID-19 patients.

Introduction: During the COVID-19 pandemic, electroencephalography (EEG) proved to be a useful tool to demonstrate brain involvement. Many studies reported non-reactive generalized slowing as the most frequent pattern and epileptiform activity in a minority of patients.

Objective: To investigate the prevalence of diffuse unreactive background attenuation or suppression and its correlation with outcome in a cohort of COVID-19 patients.

Case Report: Post-COVID-19 Vaccine Recurrence of Guillain-Barré Syndrome Following an Antecedent Parainfectious COVID-19-Related GBS.

Guillain-Barré syndrome (GBS) is an autoimmune neurological disorder often preceded by viral illnesses or, more rarely, vaccinations. We report on a unique combination of postcoronavirus disease 2019 (COVID-19) vaccine GBS that occurred months after a parainfectious COVID-19-related GBS. Shortly after manifesting COVID-19 symptoms, a 57-year-old man developed diplopia, right-side facial weakness, and gait instability that, together with electrophysiology and cerebrospinal fluid examinations, led to a diagnosis of post-COVID-19 GBS.

COVID-19 vaccine-related Guillain-Barré syndrome in the Liguria region of Italy: A multicenter case series.

Background And Purpose: Guillain-Barré-Syndrome (GBS) can follow COVID-19 vaccination, with clinical and paraclinical features still to be precisely assessed. We describe a cohort of patients who developed GBS after vaccination with different types of COVID-19 vaccines.

Methods: Patients with post-COVID-19 vaccination GBS, admitted to the six hospitals that cover the whole Liguria Region, Northwestern Italy, from February 1st to October 30th 2021, were included.

A phase I/IIa clinical trial of autologous hematopoietic stem cell transplantation in amyotrophic lateral sclerosis.

Objective: To verify the safety and potential effect on ALS progression of a low-intensity immunosuppressive regimen followed by autologous hematopoietic stem cell transplantation (aHSCT) in amyotrophic lateral sclerosis (ALS) patients.

Methods: ALS eligible patients underwent a set of clinical and laboratory evaluations at T-4 (screening), T-1 (pre-treatment visit), and for the 12 consecutive months after treatment (T3, T6, T9, T12). We evaluated the tolerability of the procedure, its efficacy on clinical course and quality of life (QoL).

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.

Importance: Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.

Objective: To identify the genetic variants associated with juvenile ALS.

Design, Setting, And Participants: In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation.

Predictors of self-perceived health worsening over COVID-19 emergency in ALS.

Introduction: Factors influencing self-perceived health status over Corona Virus Disease 2019 (COVID-19) emergency in vulnerable populations, such as patients with chronic neurological diseases, are still unknown. In this work, we aimed at testing whether clinical care changes imposed by the quarantine, together with certain demographic and disease-specific features, might have determined a self-perceived worsening of health status in patients with amyotrophic lateral sclerosis (ALS).

Methods: A brief web-based questionnaire investigating self-perceived anxiety, depression, and motor worsening, as well as clinical care changes over COVID-19 emergency, was administered to ALS patients currently followed at San Martino Hospital.

COVID-19-related and not related Guillain-Barré syndromes share the same management pitfalls during lock down: The experience of Liguria region in Italy.

Recently, during the pandemic infection of the novel SARS-CoV-2, some cases of Guillan-Barré Syndrome (GBS) have been reported. The aim of this work is to report the natural history of patients with GBS, both COVID and not-COVID related, hospitalized in Liguria region, during lock down period, in order to assess clinical features of both groups and possible managements pitfalls due to pandemic emergency. Fifteen GBS patients were admitted to the Hospitals of Liguria, from February 15th to May 3rd 2020, six with SARS-CoV-2 infection and nine without infection.

Epilepsy course during COVID-19 pandemic in three Italian epilepsy centers.

During epidemic outbreaks, epilepsy course can be modified by different physical and psychological stressors and, most importantly, by irregular therapy intake. The effect of COVID-19 and quarantine isolation on the course of epilepsy and on incidence of new-onset seizures is still unclear. With the aim of managing epilepsy in quarantined patients, three Italian Epilepsy Centers set up telephone consultations using a semistructured interview, allowing a prospective collection of data on seizure course and other seizure-related problems during pandemic.

Are basketball players more likely to develop Hirayama disease?

Hirayama disease is a rare neurological disease affecting primarily men in the second to third decades. To date there are only few reports from Italy. We report the case of three young basketball players who presented with clinical, electrophysiological and MRI findings suggestive for Hirayama disease.

Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients.

The aim of our study was to evaluate the role of mutations in the MAPT gene in patients with pure amyotrophic lateral sclerosis (ALS). A cohort of 120 ALS patients, both sporadic and familial, without cognitive impairment was analyzed by next-generation sequencing with a multiple-gene panel comprising 23 genes, including MAPT, known to be associated with ALS and frontotemporal dementia. The presence of the C9orf72 expansion was also investigated.

Interplay between spinal cord and cerebral cortex metabolism in amyotrophic lateral sclerosis.

We recently reported the potential of Hough transform in delineating spinal cord metabolism by 18F-fluorodeoxyglucose PET/CT scanning in amyotrophic lateral sclerosis. The present study aimed to verify the relationship between spinal cord and brain metabolism in 44 prospectively recruited patients affected by amyotrophic lateral sclerosis submitted to 18F-fluorodeoxyglucose brain and whole-body PET/CT. Patients were studied to highlight the presence of brain hypo- or hypermetabolism with respect to healthy controls, and multiple regression analysis was performed to evaluate the correlation between spinal cord and brain metabolism.