Publications by authors named "Nadaj-Pakleza A"
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.
-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.
TIA1/SQSTM1 myopathy is one of the few digenic myopathies. We describe four new French adult male patients carrying the TIA1 p.Asn357Ser and SQSTM1 p.
View Article and Find Full Text PDFNon-dystrophic myotonias (NDM) are disabling genetic diseases that impact quality of life. To reduce the impact of NDM, patients develop coping strategies such as lifestyle adaptation and avoiding key triggers. To understand how myotonia affects patients' lives, the IMPACT survey, an online questionnaire on patient-reported outcomes, was developed based on international IMPACT questionnaire.
View Article and Find Full Text PDFFilamin C-related disorders include myopathies and cardiomyopathies linked to variants in the gene. Filamin C belongs to a family of actin-binding proteins involved in sarcomere stability. This study investigates the pathogenic impact of the c.
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- * 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
- Some myopathies can cause dropped head or bent spine syndrome (DH/BS), but its significance in inflammatory myopathies (IM) hasn't been thoroughly explored.
- A study compared 49 patients with DH/BS related to IM to 98 control IM patients, finding that those with DH/BS were older and had more severe symptoms, including upper limb weakness, dysphagia, and muscle atrophy.
- The results suggest that DH/BS serves as a marker for the severity of IM and is often linked to complications related to systemic sclerosis, highlighting its clinical importance.
Background: The diagnosis of patients with mutations in the VCP gene can be complicated due to their broad phenotypic spectrum including myopathy, motor neuron disease and peripheral neuropathy. Muscle MRI guides the diagnosis in neuromuscular diseases (NMDs); however, comprehensive muscle MRI features for VCP patients have not been reported so far.
Methods: We collected muscle MRIs of 80 of the 255 patients who participated in the "VCP International Study" and reviewed the T1-weighted (T1w) and short tau inversion recovery (STIR) sequences.
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.
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.
Background: 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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- The study investigated the incidence rate of inflammatory myopathies (IM) using refined methods, estimating a rate of 8.22 cases per million annually in Alsace, France.
- The research included data from multiple sources over a 6-year period and corrected for missed cases through capture-recapture analysis.
- Findings showed no variations in incidence over time or space, with other systemic manifestations frequently observed in patients alongside muscle symptoms.
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.
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- MORC2 gene encodes a protein crucial for chromatin remodeling, DNA repair, and transcription regulation, with mutations linked to various peripheral nervous system disorders.
- Heterozygous mutations lead to conditions like Charcot-Marie-Tooth disease and DIGFAN syndrome, posing diagnostic challenges due to many unknown variants from genetic testing.
- The study developed an in vitro model to assess the impact of unknown MORC2 variants, revealing that specific mutations lead to increased cell death and impaired neuron growth, linking them to autosomal dominant CMT and late onset motor neuropathy.
Background: Valosin-containing protein (VCP) disease, caused by mutations in the gene, results in myopathy, Paget's disease of bone (PBD) and frontotemporal dementia (FTD). Natural history and genotype-phenotype correlation data are limited. This study characterises patients with mutations in gene and investigates genotype-phenotype correlations.
View Article and Find Full Text PDFBackground: Facioscapulohumeral muscular dystrophy (FSHD) is among the most prevalent muscular dystrophies and currently has no treatment. Clinical and genetic heterogeneity are the main challenges to a full comprehension of the physiopathological mechanism. Improving our knowledge of FSHD is crucial to the development of future therapeutic trials and standards of care.
View Article and Find Full Text PDFThe objective was to investigate whether resveratrol (RSV) can improve exercise capacity in patients with fatty acid oxidation (FAO) disorders. The study was a randomized, double-blind, cross-over trial. Nine patients with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency or carnitine palmitoyl transferase (CPT) II deficiency were randomized to receive either 8 weeks of 1000 mg day RSV or placebo (P) followed by a 4-weeks wash-out period and subsequently 8 weeks of the opposite treatment.
View Article and Find Full Text PDFBackground And Purpose: Data on interruption of enzyme replacement therapy (ERT) are scarce in late onset Pompe disease. Due to the COVID-19 crisis, eight neuromuscular reference centers in France were obligated to stop the treatment for 31 patients.
Methods: We collected the motor and respiratory data from our French registry, before COVID-19 and at treatment restart.
The MYOMEX study was a multicentre, randomised, double-blind, placebo-controlled, cross-over study aimed to compare the effects of mexiletine vs. placebo in patients with myotonia congenita (MC) and paramyotonia congenita (PC). The primary endpoint was the self-reported score of stiffness severity on a 100 mm visual analogic scale (VAS).
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.
View Article and Find Full Text PDFBackground: The recent lockdown due to the COVID-19 pandemic has been linked to a higher incidence of psychiatric manifestations and substance abuse. The recreative use of nitrous oxide is more and more widespread and neurological complications are frequent.
Methods: We report clinical characteristics and biological findings of five consecutive patients presenting to our tertiary care center between April 2020 and February 2021 with various neurological symptoms occurring after recent nitrous oxide abuse.