Importance of neural network complexity for the automatic segmentation of individual thigh muscles in MRI images from patients with neuromuscular diseases.

Objective: Segmentation of individual thigh muscles in MRI images is essential for monitoring neuromuscular diseases and quantifying relevant biomarkers such as fat fraction (FF). Deep learning approaches such as U-Net have demonstrated effectiveness in this field. However, the impact of reducing neural network complexity remains unexplored in the FF quantification in individual muscles.

Electrophysiological Monitoring of Asymptomatic Transthyretin Mutation Carriers.

Introduction/aims: It is imperative to screen asymptomatic carriers of transthyretin (TTR) mutations to initiate treatment early. The protocol for repeated electrodiagnostic (EDX) assessments over time lacks standardization. Our aim was to report the electrophysiological evolution of a cohort of asymptomatic carriers and to determine which biomarkers were most sensitive to change.

Real-life experience with disease-modifying drugs in hereditary transthyretin amyloid polyneuropathy: A clinical and electrophysiological appraisal.

Introduction: New treatments have dramatically improved the prognosis for Hereditary Transthyretin Amyloid Polyneuropathy (ATTRv-PN). However, there is a lack of routine follow-up studies outside of therapeutic trials. Our aim was to report the long-term clinical and electrophysiological evolution of a cohort of ATTRv-PN patients and to determine which biomarkers are most sensitive to change.

Quantitative muscle MRI combined with AI-based segmentation as a follow-up biomarker for ATTRv patients: A longitudinal pilot study.

Background And Objectives: Intramuscular fat fraction (FF), assessed using quantitative MRI (qMRI), has emerged as a promising biomarker for hereditary transthyretin amyloidosis (ATTRv) patients. Currently, the main drawbacks to its use in future therapeutic trials are its sensitivity to change over a short period of time and the time-consuming manual segmentation step to extract quantitative data. This pilot study aimed to demonstrate the suitability of an Artificial Intelligence-based (AI) segmentation technique to assess disease progression in a real-life cohort of ATTRv patients over 1 year.

Electrophysiological features of the peripheral neuropathy in patients with pathologic biallelic RFC1 repeat expansions.

Introduction/aims: Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is caused by RFC1 expansions. Sensory neuronopathy, polyneuropathy, and involvement of motor, autonomic, and cranial nerves have all been described with RFC1 expansions. We aimed to describe the electrodiagnostic features of patients with RFC1 expansions through multimodal electrophysiological investigations.

Longitudinal follow-up and prognostic factors in nitrous oxide-induced neuropathy.

Background And Aim: Recreational use of nitrous oxide (NO) has been associated with the development of severe nitrous oxide-induced neuropathy (NOn). Follow-up of these patients poses challenges, and their clinical progression remains largely unknown. The identification of prognostic factors is made difficult by the lack of standardized longitudinal assessments in most studies.

Factors affecting the topography of nitrous oxide-induced neurological complications.

Background: The factors underlying the topography of nitrous oxide (NO)-induced neurological complications are unknown.

Methods: We included all consecutive patients admitted to the university hospital of Marseille for NO-induced neurological complications in a prospective observational study. Patients underwent neurological examination, spinal cord magnetic resonance imaging, and nerve conduction studies within the first 4 weeks after admission.

Clinical, biological, electrophysiological and therapeutic profile of patients with anti-MAG neuropathy according to MYD88 and CXCR4 mutations and underlying haemopathy.

Introduction: Anti-MAG neuropathies are associated with an IgM monoclonal gammopathy of undetermined significance (MGUS) or with a malignant haemopathy. Our objective was to determine whether the presence of a haemopathy or somatic mutations of MYD88 and CXCR4 genes influences disease presentation and response to rituximab (RTX).

Methods: We included 79 patients (mean age 74 years, disease duration 9.

The Impact of Fatty Infiltration on MRI Segmentation of Lower Limb Muscles in Neuromuscular Diseases: A Comparative Study of Deep Learning Approaches.

Background: Deep learning methods have been shown to be useful for segmentation of lower limb muscle MRIs of healthy subjects but, have not been sufficiently evaluated on neuromuscular disease (NDM) patients.

Purpose: Evaluate the influence of fat infiltration on convolutional neural network (CNN) segmentation of MRIs from NMD patients.

Study Type: Retrospective study.

Kidney involvement in hereditary transthyretin amyloidosis: a cohort study of 103 patients.

Background: Hereditary transthyretin amyloidosis (ATTRv) is a disabling and life-threatening disease that primarily affects the nervous system and heart. Its kidney involvement has not been systematically studied, particularly in non-V30M mutations, and is not well known to nephrologists.

Methods: We conducted a retrospective study describing the kidney phenotype of all prevalent patients with ATTR mutations, with neurological or cardiac involvement or presymptomatic carriers, followed up in two university hospitals from the South of France between June 2011 and June 2021.

Shoulder palsy following SARS-CoV-2 infection: two cases of typical Parsonage-Turner syndrome.

Background And Purpose: Coronavirus disease 2019 (COVID-19) is now known to cause neurological complications in both the central and the peripheral nervous system. Two new cases of typical neuralgic amyotrophy or Parsonage-Turner (PT) syndrome following coronavirus 2 infection (SARS-CoV-2) are reported here with explicit electrophysiological and imaging pathological features, underlining the possible association between COVID-19 and PT syndrome.

Case Reports: Case 1 was a 45-year-old schoolteacher presenting with acute pain in the right shoulder a few days after SARS-CoV-2 infection, with shoulder abduction and elbow flexion weakness.

Motor unit number index as an individual biomarker: Reference limits of intra-individual variability over time in healthy subjects.

Objective: Motor unit number index (MUNIX) is proposed to monitor neuromuscular disorders. Our objective is to determine the intra-individual variability over time of the MUNIX.

Methods: In 11 different hospital centres, MUNIX was assessed twice, at least 3 months apart (range 90-360 days), in tibialis anterior (TA), abductor pollicis brevis (APB), abductor digiti minimi (ADM) and deltoid muscles in 118 healthy subjects.

Quantitative assessment of sciatic nerve changes in Charcot-Marie-Tooth type 1A patients using magnetic resonance neurography.

Background And Purpose: Nerve tissue alterations have rarely been quantified in Charcot-Marie-Tooth type 1A (CMT1A) patients. The aim of the present study was to quantitatively assess the magnetic resonance imaging (MRI) anomalies of the sciatic and tibial nerves in CMT1A disease using quantitative neurography MRI. It was also intended to seek for correlations with clinical variables.

Quantitative sudomotor test helps differentiate transthyretin familial amyloid polyneuropathy from chronic inflammatory demyelinating polyneuropathy.

Objective: Transthyretin familial amyloid polyneuropathy (TTR-FAP) is an aggressive hereditary neuropathy characterized by sensory and autonomic dysfunction. There are numerous reports of TTR-FAP misdiagnosed and treated as chronic inflammatory demyelinating polyneuropathy (CIDP), leading to delayed diagnosis, risk of iatrogenic adverse events and increased socio-economic costs. Quantitative sudomotor function measured by electrochemical skin conductance (ESC) appears to be a sensitive test in TTR-FAP.

Structural Connectivity Alterations in Amyotrophic Lateral Sclerosis: A Graph Theory Based Imaging Study.

Background: Amyotrophic lateral sclerosis (ALS) is a relentlessly progressive neurodegenerative disorder. Diffusion magnetic resonance imagining (MRI) studies have consistently showed widespread alterations in both motor and non-motor brain regions. However, connectomics and graph theory based approaches have shown inconsistent results.

Quantitative Brain Sodium MRI Depicts Corticospinal Impairment in Amyotrophic Lateral Sclerosis.

Background Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that mainly affects the upper and lower motor neurons. Recent sodium (Na) MRI studies have shown that abnormal sodium concentration is related to neuronal suffering in neurodegenerative conditions. Purpose To use Na MRI to investigate abnormal sodium concentrations and map their distribution in the brains of study participants with ALS as compared with healthy control subjects.