Publications by authors named "Jean-Baptiste Chanson"
Article Synopsis
- * Researchers analyzed data from 275 CMTX1 patients across 13 centers in France, finding that those with mutations in transmembrane domains had more severe symptoms and earlier onset than those with mutations in intracellular or extracellular domains.
- * The findings suggest that the type of genetic mutation not only helps diagnose CMTX1 but also predicts disease severity, emphasizing the need to consider these correlations in upcoming clinical research.
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a rare immune-mediated neuropathy for which there is no clearly identified risk factor. The present study identified rare variants in the FBXO38 gene in three familial cases of CIDP with response to corticosteroids in three generations with incomplete penetrance, and in an unrelated fourth case with diffuse nerve hypertrophy. FBXO38 may be involved in the regulation of the immunity mediated by CD8 T cells, which have an important role in CIDP pathophysiology, through PD1 degradation.
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- 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.
Article Synopsis
- Congenital myasthenic syndromes (CMS) are genetic disorders that impact neuromuscular transmission, primarily identified in childhood but often diagnosed in adulthood, leading to challenges in management.
- A study of 235 adult CMS patients in France revealed diverse genetic mutations and highlighted the need for ongoing care, as the prognosis and long-term outcomes remain unclear.
- The research categorized patients based on the initial symptoms and found varied disease progression patterns, with certain genotypes showing higher rates of ICU admission and the stability of phenotypical features across a patient's life.
Background: Whether spinocerebellar ataxia 27B (SCA27B) may present as a cerebellar multiple system atrophy (MSA-C) mimic remains undetermined.
Objectives: To assess the prevalence of FGF14 (GAA) expansions in patients with MSA-C, to compare SCA27B and MSA-C clinical presentation and natural history.
Methods: FGF14 expansion screening combined with longitudinal deep-phenotyping in a prospective cohort of 195 patients with sporadic late-onset cerebellar ataxia.
Clinical and Electrophysiological Characterization of Essential Tremor in 18 Children and Adolescents.
Tremor Other Hyperkinet Mov (N Y)
December 2023
Background: Essential tremor (ET) is considered the most frequent abnormal movement in the general population, with childhood onset in 5 to 30% of the patients.
Methods: A multicenter, descriptive cross-sectional study enrolled patients ⩽18 years with a definite diagnosis of ET according to the International Parkinson and Movement Disorders Society criteria. Demographic data, clinical and electrophysiological characteristics of the tremor, neurological examination and impact on quality of life were collected.
Article Synopsis
- * The majority of the 44 patients experienced disease onset during childhood, with symptoms including muscle pain, weakness, and frequent episodes of rhabdomyolysis, often leading to significant complications; many patients took years to receive a diagnosis.
- * The study suggests the establishment of a standardized patient registry to better track and evaluate treatment effectiveness and patient outcomes over the long term.
Article Synopsis
- Hereditary transthyretin amyloidosis (ATTRv) is a genetic disease that typically starts in adults and leads to progressive nervous system issues, but there are effective treatments available.
- A study conducted in France over five years analyzed 553 patients over 50 with progressive nerve problems, finding that 2.7% had pathogenic gene variants linked to ATTRv, primarily the Val30Met variant.
- Patients with ATTRv were more likely to experience symptoms like severe weight loss and orthostatic hypotension, and the diagnosis allowed for specific treatments and identified additional cases in family members, emphasizing the importance of early detection.
Background: Myasthenia gravis (MG) is an autoimmune disease treated with acetylcholinesterase inhibitors and immunosuppressant/immunomodulatory drugs. MG is frequently diagnosed in elderly patients, a fragile population in which treatment adverse effects (TAE) have not been evaluated until now.
Methods: We retrospectively analysed the files of all MG patients with disease onset after age 70 years in four French University Hospitals, including clinical, electrophysiological, biological, and treatment data, with an emphasis on TAE.
Background: Heterozygous GAA expansions in the FGF14 gene have been related to autosomal dominant cerebellar ataxia (SCA27B-MIM:620174). Whether they represent a common cause of sporadic late-onset cerebellar ataxia (SLOCA) remains to be established.
Objectives: To estimate the prevalence, characterize the phenotypic spectrum, identify discriminative features, and model longitudinal progression of SCA27B in a prospective cohort of SLOCA patients.
Article Synopsis
- This study focuses on non-5q spinal muscular atrophy (SMA), aiming to explore its clinical and genetic characteristics and the effectiveness of gene panels for diagnosis.
- The research included 71 patients from various centers who underwent genetic testing, revealing a lower diagnostic success rate in those with specific types of SMA symptoms, and highlighting factors that could predict a successful diagnosis.
- The findings indicate that while neuropathy gene panels provide some insights (about 32% success), broader genetic testing is necessary to enhance understanding and treatment for patients with this genetically diverse condition.
Proximal spinal muscular atrophy (SMA) is defined by a degeneration of the anterior horn cells resulting in muscle weakness predominantly in the proximal lower limbs. While most patients carry a biallelic deletion in the SMN1 gene (localized in chromosome 5q), little is known regarding patients without SMN1-mutation, and a genetic diagnosis is not always possible. Here, we report a cohort of 24 French patients with non-5q proximal SMA from five neuromuscular centers who all, except two, had next-generation sequencing (NGS) gene panel, followed by whole exome sequencing (WES) if gene panel showed a negative result.
View Article and Find Full Text PDFBackground: X-Linked Charcot-Marie-Tooth disease type 1 (CMTX1) is characterized by gender differences in clinical severity. Women are usually clinically affected later and less severely than men. However, their clinical presentation appears to be heterogenous.
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- Mutations in the EGR2 gene are linked to several hereditary neuropathies, including types of Charcot-Marie-Tooth disease and congenital neuropathy.
- A study identified 14 patients with EGR2 mutations, revealing a mean age of 44 years and a disease duration of 28 years, with common symptoms like pes cavus and distal limb weakness in all cases.
- The results show that EGR2-related neuropathies are rare progressive conditions that can present in childhood or adulthood, often misdiagnosed as inflammatory neuropathies, and include a range of previously unreported mutations.
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.
Background And Purpose: Biallelic variants in SORD have been reported as one of the main recessive causes for hereditary peripheral neuropathies such as Charcot-Marie-Tooth disease type 2 (CMT2) and distal hereditary motor neuropathy (dHMN) resulting in lower limb (LL) weakness and muscular atrophy. In this study, phenotype and genotype landscapes of SORD-related peripheral neuropathies were described in a French and Swiss cohort. Serum sorbitol dosages were used to classify SORD variants.
View Article and Find Full Text PDFBackground And Purpose: In this retrospective study involving 14 university hospitals from France and Switzerland, the aim was to define the clinicopathological features of chronic neuropathies with anti-disialosyl ganglioside immunoglobulin M (IgM) antibodies (CNDA).
Results: Fifty-five patients with a polyneuropathy evolving for more than 2 months and with at least one anti-disialosyl ganglioside IgM antibody, that is, anti-GD1b, -GT1b, -GQ1b, -GT1a, -GD2 and -GD3, were identified. Seventy-eight percent of patients were male, mean age at disease onset was 55 years (30-76) and disease onset was progressive (82%) or acute (18%).
Emotional disorders in multiple sclerosis (MS) are frequently described as difficulties in recognizing facial expressions, rarely in the experience dimension. Moreover, interaction between emotional disorders and cognitive or psychological disorders remains little documented. The aim of this study is to explore emotions in MS in emotion recognition and emotional experience and compare these data with cognitive, psychological, and disease aspects.
View Article and Find Full Text PDFBackground: Due to their health condition, patients with neuromuscular diseases (NMD) are at greater risk of developing serious complications with COVID-19. The objective of this study was to analyze the prevalence of COVID-19 among NMD patients and the risk factors for its impact and severity during the first wave of the pandemic. Clinical data were collected from NMD-COVID-19 patients, between March 25, 2020 and May 11, 2020 in an anonymous survey carried out by expert physicians from the French Health Care Network Filnemus.
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- 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.
Background And Purpose: Preparations for clinical trials of unfolded protein response (UPR) inhibitors (such as Sephin1) that target the upregulated UPR in patients with Charcot-Marie-Tooth disease (CMT) carrying MPZ mutations are currently underway. The inclusion criteria for these trials are still being formulated. Our objective was to characterize the relation between genotypes and phenotypes in patients with CMT caused by MPZ mutations, and to refine the inclusion criteria for future trials.
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- CANVAS is a genetic condition that affects balance and coordination, caused by changes in a specific gene called RFC1.
- Researchers studied 163 patients in France with different types of ataxia and found that 15 had the CANVAS condition, but only in the group with late-onset ataxia.
- The study suggests that doctors should check for the RFC1 gene changes mostly in patients with unexplained late-onset ataxia and nerve issues, not so much in those suspected of having a different condition called MSA-C.