Background: Lumbar puncture (LP) is a critical diagnostic procedure in the evaluation of neurological diseases. Although considered safe, complications such as post-dural puncture headache (PDPH), back pain, subdural hematoma or venous sinus thrombosis may still occur. Whether the use of antiplatelet therapy (APT) increases the risk of complications after LP, remains unclear.
View Article and Find Full Text PDFThe discovery of autoantibodies directed against muscle-specific kinase (MuSK) in "seronegative" myasthenia gravis (MG) patients marked a milestone in MG research. In healthy muscle, MuSK regulates a phosphorylation pathway, which is essential for the development and maintenance of acetylcholine receptor (AChR) clusters at the neuromuscular junction. Autoantibodies directed against MuSK are predominantly of the IgG4 subclass, but there is increasing evidence that IgG1-3 could also contribute to the pathology underlying MuSK-MG.
View Article and Find Full Text PDFBackground: The significance of muscle biopsy as a diagnostic tool in idiopathic inflammatory myopathies (IIM) remains elusive. We aimed to determine the diagnostic weight that has been given to muscle biopsy in patients with suspected IIM, particularly in terms of clinical diagnosis and therapeutic decisions.
Material And Methods: In this retrospective multicentric study, we analyzed muscle biopsy results of adult patients with suspected IIM referred to a tertiary center between January 1, 2007, and October 31, 2021.
Introduction/aims: The clinical presentation of multifocal motor neuropathy (MMN) may mimic early amyotrophic lateral sclerosis (ALS) with predominant lower motor neuron (LMN) involvement, posing a diagnostic challenge. Both diseases have specific treatments and prognoses, highlighting the importance of early diagnosis. The aim of this study was to assess the diagnostic value of serum neurofilament light chain (NfL) in differentiating MMN from LMN dominant ALS.
View Article and Find Full Text PDFMyasthenia gravis (MG), Lambert-Eaton myasthenic syndrome (LEMS), and congenital myasthenic syndromes (CMS) represent an etiologically heterogeneous group of (very) rare chronic diseases. MG and LEMS have an autoimmune-mediated etiology, while CMS are genetic disorders. A (strain dependent) muscle weakness due to neuromuscular transmission disorder is a common feature.
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