Neurological Manifestations of HEV Infection: A Rare Phenomenon or an Underrecognized Reality?

Aim: This study aimed to describe neurological manifestations secondary to hepatitis E virus (HEV) through the description of two clinical cases.

Methods: Two different cases of neuralgic amyotrophy and meningoradiculitis are evaluated in the emergency department of a tertiary referral hospital in 2024.

Results: Case 1: A 43-year-old male presented to the emergency department with proximal weakness and pain in the right upper extremity associated with acute onset of orthopnea.

Identifying risk for status epilepticus with the ADAN scale: a prospective multicenter validation study.

Objectives: Status epilepticus (SE) is a serious event associated with high mortality. This study aims to validate the recently developed ADAN (Abnormal speech, ocular Deviation, Automatisms, and Number of motor epileptic seizures) scale for detecting high risk for SE.

Material And Methods: Prospective, multicenter, observational study in adults with suspected epileptic seizures.

Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related disease.

TANGO2-related disease is an autosomal recessive multisystem disease associated with developmental delay and infancy-onset recurrent metabolic crises with early mortality. Several studies have reported dysfunction in endoplasmic reticulum-to-Golgi traffic and mitochondrial homoeostasis as the underlying pathophysiology. We report a 40-year-old woman affected by limb-girdle weakness and mild intellectual disability caused by the recurrent deletion of exons 3-9 in homozygosity in the TANGO2 gene.

Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.

RRM2B encodes the p53-inducible small subunit (p53R2) of ribonucleotide reductase, a key protein for mitochondrial DNA (mtDNA) synthesis. Pathogenic variants in this gene result in familial mitochondrial disease in adults and children, secondary to a maintenance disorder of mtDNA. This study describes two patients, mother and son, with early-onset chronic progressive external ophthalmoplegia (PEO).

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.

COVID-19 in multiple sclerosis patients: susceptibility, severity risk factors and serological response.

Background And Purpose: Information regarding multiple sclerosis (MS) patients with the 2019 novel coronavirus disease (COVID-19) is scarce. The study objective was to describe the incidence and characteristics of MS patients with COVID-19, to identify susceptibility and severity risk factors and to assess the proportion of positive severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) serologies according to disease-modifying treatments.

Methods: This was a retrospective study of an MS cohort analysing data collected between February and May 2020.