Electrophysiological findings in immune checkpoint inhibitor-related neuromuscular events.

Introduction: Immune checkpoint inhibitors (ICIs) have become key therapies for various malignancies by restoring antitumor immunity. However, they may trigger immune-related adverse events (irAEs), including neurological irAEs (n-irAEs), which, though rare, can be severe. Among these, neuromuscular disorders affecting peripheral nerves, the neuromuscular junction (NMJ), and muscle are the most frequent and carry the highest mortality risk, warranting prompt recognition.

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.

A Rare Guillain-Barré Syndrome Variant with Multi-Ganglioside Reactivity: A Case of Severe Cranial Nerve Involvement.

Introduction: We present a rare case of acute immune-mediated polyradiculoneuritis, a Guillain-Barré Syndrome (GBS) variant, manifesting as ophthalmoparesis-ataxia, facial diplegia, and acute bulbar palsy, accompanied by a unique autoimmune profile.

Clinical Case: A 75-year-old female developed rapidly progressive symptoms, including bilateral non-reactive mydriasis, ptosis, complete ophthalmoplegia, bilateral facial weakness, tongue immobility, palatal paralysis, limb dysmetria, ataxia, and brisk generalized tendon reflexes, all while maintaining a preserved mental state. Symptoms emerged 10 days after a probable gastrointestinal infection.

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.

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.