Publications by authors named "Thierry Maisonobe"

Article Synopsis
  • ALS is a disease that affects nerve cells and usually leads to severe muscle problems and a short life expectancy of 3-5 years.
  • The study explored how cholesterol and its levels in muscle might relate to the problems caused by ALS, showing that ALS patients had more cholesterol in their muscles.
  • Researchers noticed that certain genes related to cholesterol movement were overactive in ALS patients, suggesting that cholesterol buildup might be linked to the severity of their muscle issues.
View Article and Find Full Text PDF

Background And Aims: Pathogenic variants in the NARS1 gene, which encodes for the asparaginyl-tRNA synthetase1 (NARS1) enzyme, were associated with complex central and peripheral nervous system phenotypes. Recently, Charcot-Marie-Tooth (CMT) disease has been linked to heterozygous pathogenic variants in NARS1 in nine patients. Here, we report two brothers and their mother from a French family with distal hereditary motor neuropathy (dHMN) carrying a previously unreported NARS1 variant.

View Article and Find Full Text PDF
Article Synopsis
  • The study analyzed 166 patients with acute neurological symptoms linked to anti-GQ1b antibodies, revealing frequent symptoms like areflexia, sensory issues, and muscle weakness.
  • The majority of patients were treated with intravenous immunoglobulins, leading to complete neurological recovery for 69% at the one-year mark, although 15% experienced relapses.
  • Key predictors for incomplete recovery included age over 70, initial ICU admission, and absence of anti-GQ1b antibodies; no predictors for relapse were identified.
View Article and Find Full Text PDF
Article Synopsis
  • Mononeuritis multiplex is a rare but severe side effect associated with immune checkpoint inhibitors, particularly noted in three patients with mesothelioma in a French study.
  • The study involved three elderly male patients who exhibited severe neurological symptoms and were diagnosed with mononeuritis multiplex after receiving treatment with nivolumab and ipilimumab.
  • All patients were treated with corticosteroids, resulting in improvements, but one patient required additional therapy (rituximab and cyclophosphamide) after symptom recurrence upon tapering steroids.
View Article and Find Full Text PDF

Congenital myasthenic syndromes (CMS) are a clinically and genetically heterogeneous group of rare diseases due to mutations in neuromuscular junction (NMJ) protein-coding genes. Until now, many mutations encoding postsynaptic proteins as Agrin, MuSK and LRP4 have been identified as responsible for increasingly complex CMS phenotypes. The majority of mutations identified in LRP4 gene causes bone diseases including CLS and sclerosteosis-2 and rare cases of CMS with mutations in LRP4 gene has been described so far.

View Article and Find Full Text PDF

While the spectrum of neurological immune checkpoint inhibitor-related adverse events is expanding, patients' outcomes are not well documented. This study aimed to assess outcomes of neurological immune-related adverse events and to identify prognostic factors. All patients experiencing grade ≥2 neurological immune-related adverse events identified at two clinical networks (French Reference Center for Paraneoplastic Neurological Syndromes, Lyon; and OncoNeuroTox, Paris) over five years were included.

View Article and Find Full Text PDF
Article Synopsis
  • Guillain-Barre syndrome (GBS) is a rare but serious condition that can occur during pregnancy, with a study analyzing cases from French hospitals between 2002 and 2022.
  • The study identified 16 pregnant women with GBS, highlighting that the syndrome often developed in different trimesters, and that a notable percentage required respiratory support and ICU care.
  • Comparisons with non-pregnant women with GBS revealed that pregnant women faced higher risks, such as more frequent complications, prolonged hospital delays, and serious outcomes for their fetuses, including deaths linked to infections and other conditions.
View Article and Find Full Text PDF

Introduction: Leprosy reactions (LRs) are inflammatory responses observed in 30%-50% of people with leprosy. First-line treatment is glucocorticoids (GCs), often administered at high doses with prolonged courses, resulting in high morbi-mortality. Methotrexate (MTX) is an immunomodulating agent used to treat inflammatory diseases and has an excellent safety profile and worldwide availability.

View Article and Find Full Text PDF
Article Synopsis
  • * A study analyzed nine patients without a prior history of blood cancer, confirming neurolymphomatosis through detailed clinical evaluations including nerve biopsies, imaging, and lab tests over a 15-year period.
  • * The findings showed common symptoms of neuropathy including pain and weakness, with many patients experiencing rapid deterioration, highlighting the need for awareness of this condition when diagnosing peripheral neuropathy.
View Article and Find Full Text PDF
Article Synopsis
  • The study investigates the connection between immune-checkpoint inhibitor (ICI)-associated myotoxicity, specifically looking at myocarditis and myositis, which can be life-threatening.
  • It details a treatment strategy that involved the use of mechanical ventilation for respiratory muscle issues and the administration of the drugs abatacept and ruxolitinib in patients diagnosed with severe ICI myocarditis.
  • Results showed a significant drop in myotoxicity-related fatalities from 60% in the initial patient group to just 3.4% in the later group, indicating the effectiveness of early intervention and specific treatment adjustments.
View Article and Find Full Text PDF

Background And Aims: RFC1-CANVAS and primary Sjögren syndrome (pSS) are among the most frequent causes of sensory ganglionopathy (SG) and can present simultaneously in a given patient, sharing confounding signs and symptoms. We describe the clinical characteristics of patients with SG due to CANVAS who were suspected of having or had received a previous diagnosis of pSS.

Methods: Patients with SG and a genetically confirmed RFC1-CANVAS followed in our centre were ascertained and their personal history of pSS was collected.

View Article and Find Full Text PDF

Background: The cause of the motor neuron (MN) death that drives terminal pathology in amyotrophic lateral sclerosis (ALS) remains unknown, and it is thought that the cellular environment of the MN may play a key role in MN survival. Several lines of evidence implicate vesicles in ALS, including that extracellular vesicles may carry toxic elements from astrocytes towards MNs, and that pathological proteins have been identified in circulating extracellular vesicles of sporadic ALS patients. Because MN degeneration at the neuromuscular junction is a feature of ALS, and muscle is a vesicle-secretory tissue, we hypothesized that muscle vesicles may be involved in ALS pathology.

View Article and Find Full Text PDF

Background: Livedoid vasculopathy (LV) is a chronic dermatosis associated with micro-thrombosis of the vessels of the dermis, leading to ischemic lesions and painful skin ulcerations of the lower limbs. This thrombosing occlusive vasculopathy, clearly distinct from 'classical vasculitis' (not related to alteration of vessel walls), may lead to peripheral neuropathy.

Objective: To clarify the main clinical, electrophysiological and pathological characteristics of peripheral neuropathy linked to LV.

View Article and Find Full Text PDF

CANVAS caused by RFC1 biallelic expansions is a major cause of inherited sensory neuronopathy. Detection of RFC1 expansion is challenging and CANVAS can be associated with atypical features. We clinically and genetically characterized 50 patients, selected based on the presence of sensory neuronopathy confirmed by EMG.

View Article and Find Full Text PDF

Background: Diaphragm pacing allows certain ventilator-dependent patients to achieve weaning from mechanical ventilation. The reference method consists in implanting intrathoracic contact electrodes around the phrenic nerve during video-assisted thoracic surgery, which involves time-consuming phrenic nerve dissection with a risk of nerve damage. Identifying a phrenic segment suitable for dissection-free implantation of electrodes would constitute progress.

View Article and Find Full Text PDF

A variety of neuropsychiatric complications has been described in association with COVID-19 infection. Large scale studies presenting a wider picture of these complications and their relative frequency are lacking. The objective of our study was to describe the spectrum of neurological and psychiatric complications in patients with COVID-19 seen in a multidisciplinary hospital centre over 6 months.

View Article and Find Full Text PDF

Biallelic variants in PLEKHG5 have been reported so far associated with different clinical phenotypes including Lower motor neuron disease (LMND) [also known as distal hereditary motor neuropathies (dHMN or HMN) or distal spinal muscular atrophy (DSMA4)] and intermediate Charcot-Marie-Tooth disease (CMT). We report four patients from two families presenting with intermediate CMT and atypical clinical and para-clinical findings. Patients presented with predominant distal weakness with none or mild sensory involvement and remain ambulant at last examination (22-36 years).

View Article and Find Full Text PDF
Article Synopsis
  • Charcot-Marie-Tooth (CMT) disease, a hereditary neuropathy, is often misdiagnosed as the treatable chronic inflammatory demyelinating polyradiculoneuropathy (CIDP).
  • A study of 1104 patients found that 3.2% were misdiagnosed CMT cases, revealing key differences in age, symptoms, and treatment response compared to true CIDP patients.
  • The financial analysis indicated that treating the misdiagnosed CMT patients cost significantly more (4.6 million euros) than conducting genetic tests for CMT (2.7 million euros), stressing the need for genetic analysis prior to CIDP diagnosis.
View Article and Find Full Text PDF

Jean-Martin Charcot described what he called amyotrophic lateral sclerosis in his 12 and 13 lessons published in 1873 by Bourneville. He distinguished the symptoms that were related to the lesion of the anterior horn of the spinal cord and those that were due to the degeneration (that he named "sclerosis") of its lateral column. He thought that "inflammation" progressed from the lateral column to the anterior horn (but the term inflammation is not to be taken in the current meaning): the lesion of the anterior horn was thus "deuteropathic".

View Article and Find Full Text PDF

Background: To describe the clinical, pathological, and molecular characteristics of late-onset (LO) dysferlinopathy patients.

Methods: Retrospective series of patients with LO dysferlinopathy, defined by an age at onset of symptoms ≥30 years, from neuromuscular centers in France and the International Clinical Outcome Study for dysferlinopathy (COS). Patients with early-onset (EO) dysferlinopathy (<30 years) were randomly selected from the COS study as a control group, and the North Star Assessment for Dysferlinopathy (NSAD) and Activity Limitation (ACTIVLIM) scores were used to assess functionality.

View Article and Find Full Text PDF