P40 Long-term effects of corticosteroid treatment in DMD: daily versus intermittent regimes
Duchenne muscular dystrophy (DMD) is treated with corticosteroids (CS) using intermittent or daily regimes. Risk-benefit assessment is essential to optimize treatment choice, but long-term side-effects accumulate well beyond the duration of a clinical trial. We compared retrospective data from patients treated daily (deflazacort (D)) with those of patients treated intermittently (10 days on 10 days off prednisone or deflazacort (I)), acquired as part of outpatient regular care in one national reference center in Belgium and two in the Netherlands (1995-2022). (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 1, 2023 Category: Neurology Authors: N. Ikelaar, M. van der Holst, Y. Meijer - Krom, M. Stoop, S. Houwen - van Opstal, N. Goemans, S. Geuens, L. de Waele, E. Niks Source Type: research
P168 The burden of titin variants on genetic counseling
We examined titin genetic findings from 8,220 individuals (4,703 affected individuals and 3,517 healthy relatives) submitted to the RD-Connect GPAP, as part of the Solve-RD project. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 1, 2023 Category: Neurology Authors: M. Di Feo, A. Topf, L. Matalonga, I. Paramonov, A. Perrin, M. Johari, SNV/indels working group, NMD-DITF, SolveRD Consortium, M. Cossee, P. Hackman, M. Savarese, B. Udd Tags: GENETICS OF NEUROMUSCULAR DISORDERS Source Type: research
P169 Childhood onset amyotrophic lateral sclerosis associated with SPTLC2 gain-of-function pathogenic variants: clinical, genetic, and biochemical insights
We report a cohort of eight independent patients with neonatal to juvenile-onset ALS with de-novo recurrent variants in SPTLC2. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 1, 2023 Category: Neurology Authors: R Or Bach, S. Syeda, P. Mohassel, M. Dohrn, M. Lone, S. Donkervoort, A. Foley, D. Beijer, E. Bayraktar, P. Oflazer, P. Munot, A. Rose, M. Lyons, F. Muntoni, A. Ba şak, T. Dunn, H. Tornemann, Z. Süchner, C. Bönnemann, International SPTLC2 Study Group Source Type: research
P170 TDP-43 seeding and aggregation in skeletal muscle
TDP-43 is a ubiquitously expressed RNA-binding protein which has been found in sarcoplasmic aggregates in several myopathies. TDP-43 is primarily localized in the nucleus but during cell stress is recruited to cytoplasmic stress granules. Under certain conditions, cytoplasmic misfolded TDP-43 oligomers (or seeds) can induce soluble TDP-43 to misfold and aggregate in a prion-like manner, leading to accumulation and spread of insoluble aggregates. TDP-43 seeds are capable of cell-to-cell transmission through neuronal networks, but it is unknown whether it can spread within skeletal muscle. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 1, 2023 Category: Neurology Authors: E. Lynch, S. Pittman, J. Daw, C. Weihl Source Type: research
P171 LiBi-NMD: liquid biopsies in neuromuscular diseases – the underrated value of white blood cells
Biochemical, histological, and ultra-structural studies are standard procedures in the diagnostic work-up of muscle and nerve biopsies derived from neuromuscular patients and moreover represent important biomedical research approaches toward a better understanding of the etiology of neuromuscular diseases (NMDs). In the era of next-generation-sequencing approaches, evaluation of the pathogenicity of genetic variants on muscle and nerve biopsies is often crucial. However, the investigation of tissue biopsies also harbours significant limitations: sampling is invasive, amount of tissue is often limited, and biopsies can only...
Source: Neuromuscular Disorders - October 1, 2023 Category: Neurology Authors: A. Hentschel, A. Della Marina, H. K öbel, A. Gangfuss, M. Dohrn, J. Weis, V. Dobelmann, K. Krause, T. Ruck, M. Vorgerd, U. Schara-Schmidt, A. Roos Source Type: research
