Publications by authors named "Celine Tard"
Background: Spinal muscular atrophy (SMA) patients benefit from pre-mRNA splicing modifiers targeting the SMN2 gene, which aims to increase functional SMN production. The animal toxicity affecting spermatogenesis associated with one such treatment raised questions about male SMA patients' spermatogenesis.
Methods: This descriptive, cross-sectional study was conducted from June 2022 to July 2023.
Congenital titinopathies reported to date show autosomal recessive inheritance and are caused by a variety of genomic variants, most of them located in metatranscript (MTT)-only exons. The aim of this study was to describe additional patients and establish robust genotype-phenotype associations in titinopathies. This study involved analyzing molecular, clinical, pathological, and muscle imaging features in 20 patients who had at least one pathogenic or likely pathogenic variant in MTT-only exons, with onset occurring antenatally or in the early postnatal stages.
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- * 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.
Article Synopsis
- In three clinical trials involving 142 participants with Pompe disease, 17 were deemed suitable for home infusion of avalglucosidase alfa, receiving a total of 419 supervised infusions.
- The majority of participants with late-onset Pompe disease (LOPD) experienced non-serious adverse events, while those with infantile-onset Pompe disease (IOPD) did not report any adverse effects.
- The safety and adverse event rates during home infusion were comparable to those during clinic infusions, indicating that home administration is feasible and safe for stable patients with a prior good infusion history.
Article Synopsis
- The study investigates the effectiveness of a rapid immunoassay technique (Snibe) versus mass spectrometry (LC-MS/MS) in measuring plasma homocysteine levels, particularly in patients with nitrous oxide abuse.
- Significant elevations in plasma homocysteine were found in nitrous oxide abusers, with the immunoassay delivering faster results, although it generally underestimated high levels compared to LC-MS/MS.
- The findings highlight the need for the immunoassay as a quick initial screening tool, while still recommending confirmation with LC-MS/MS for accurate diagnosis of conditions associated with oxidative stress.
-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort.
J Neurol Neurosurg Psychiatry
October 2024
Background: Myosin heavy chain 7 ()-related myopathies (-RMs) are a group of muscle disorders linked to pathogenic variants in the gene, encoding the slow/beta-cardiac myosin heavy chain, which is highly expressed in skeletal muscle and heart. The phenotype is heterogeneous including distal, predominantly axial or scapuloperoneal myopathies with variable cardiac involvement.
Methods: We retrospectively analysed the clinical, muscle MRI, genetic and myopathological features of 57 patients.
Article Synopsis
- Late onset Pompe disease (LOPD) is a rare disorder that affects muscle function due to a lack of a specific enzyme, leading to issues such as macroglossia (enlarged tongue) and swallowing difficulties in patients.
- A study of 100 adult LOPD patients revealed that 32% experienced some level of swallowing difficulties, with 20% dealing with daily dysphagia and 18% facing aspiration risks, yet only a small number were receiving help from speech therapists.
- The findings suggest that common swallowing problems significantly affect patients' daily lives, highlighting the need for healthcare professionals to be more aware of these symptoms and to provide coordinated care involving specialists like speech therapists and dietitians.
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.
Article Synopsis
- Researchers investigated cognitive impairments in adults with Myotonic dystrophy type 1 (DM1), which varied significantly across studies, aiming to identify different cognitive profiles linked to clinical and behavioral traits.
- A study with 124 DM1 patients conducted various cognitive tests and found three distinct cognitive clusters: one with preserved functions, one with executive function deficits, and another with severe cognitive impairments.
- Younger patients with more recent onset and higher education levels were more likely to be in the cluster with preserved cognitive functions, highlighting the influence of age and DM1 duration on cognitive abilities and suggesting a potential neurodegenerative process in DM1.
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.
Article Synopsis
- Late-onset Pompe disease (LOPD) is a progressive muscle disorder caused by a deficiency in an enzyme, and switching to the drug avalglucosidase alfa has shown promise for patients not responding to the standard treatment, alglucosidase alfa.
- A study analyzing data from the French Pompe registry found that after switching medications, patients exhibited stabilization in motor function, specifically in the Six-Minute Walk Test, while respiratory function remained largely unchanged.
- Overall, while most patients experienced a slowdown in the decline of motor abilities after the switch, individual results varied, with some showing improvement and others continuing to decline.
Article Synopsis
- * Experimental mouse models showed that pairing a TAM mutation (Stim1R304W) with a partial ORAI1 mutation (Orai1R93W) led to positive health outcomes, including improved bone structure, spleen health, muscle function, and increased platelet counts.
- * The study suggests that targeting ORAI1 could offer a potential treatment strategy for TAM/STRMK, and identified myostatin as a potential biom
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- This study investigates cognitive impairment in patients with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS), focusing on those who are RFC1-positive.* ! -
- Out of 21 patients assessed, 71% had significant cognitive deficits as measured by the Montreal Cognitive Assessment, with some patients showing signs of dementia and mild cognitive impairment.* ! -
- The findings suggest that cognitive issues are common in RFC1-related disorders and should be recognized and routinely evaluated in affected patients.* !
Article Synopsis
- The study investigates the rising neurological complications from nitrous oxide (NO) abuse, particularly focusing on two main types of nerve damage: axonal and demyelinating neuropathy.
- Researchers examined 35 patients with sensorimotor symptoms linked to recreational NO use, gathering a variety of data to categorize their conditions and assess metabolic factors.
- Findings reveal that many patients had length-dependent axonal neuropathy, while a significant portion presented demyelinating features, with metabolic markers like homocysteine and methylmalonic acid varying between the two groups, suggesting these may help in understanding the condition better.
Article Synopsis
- In 2017, nusinersen, an injectable treatment for spinal muscular atrophy (SMA), was introduced, followed by the oral treatment risdiplam in 2020, leading to questions about appropriate care for adults with SMA due to limited data.
- To standardize treatment access in France, a national SMA multidisciplinary team meeting (SMDT) was established in 2018 to support decision-making for adult patients.
- An analysis of 107 patient cases showed that the SMDTs provided various treatment recommendations based on consultations, with most requests aimed at starting new treatments (nusinersen or risdiplam).
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.
Article Synopsis
- Myotonic dystrophy type 1 (DM1) leads to difficulties in social cognition, particularly affecting theory of mind (ToM), which is the ability to understand others' emotions and thoughts.
- In a study with 50 DM1 patients and 50 healthy controls, DM1 patients showed significant impairments in affective aspects of ToM, linked to older age, lower education, and certain genetic traits, but not to behavioral issues.
- The findings suggest that brain structure abnormalities in DM1 patients contribute to these cognitive deficits, especially in understanding emotions rather than thoughts.
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.
Article Synopsis
- The French Pompe Disease Registry was established in 2004 to track the progress of the disease in patients and evaluate the long-term effects of enzyme replacement therapy (ERT) with alglucosidase-alfa.
- An update on 210 patients from the registry reveals that the median age of participants was almost 49, with many initially presenting symptoms like muscle weakness and respiratory issues, affecting their mobility significantly.
- The findings indicate that awareness among doctors has improved, leading to earlier diagnoses and a decrease in the severity of cases at the time of inclusion, highlighting the registry's role in understanding and managing Pompe disease effectively.
Article Synopsis
- - The study investigates how executive dysfunction impacts freezing of gait (FoG) in Parkinson's patients, focusing on attentional load during step initiation tasks.
- - Results show that while patients with FoG have impaired executive control and longer step execution times, the differences in brain activity related to executive function are not significantly varied across all groups.
- - The findings suggest that the relationship between executive control and FoG is complex and challenges the idea that cognitive issues are the primary cause of freezing episodes in these patients.
Article Synopsis
- 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.