Prise en charge des biopsies musculaires et nerveuses. Recommandations formalisées d’experts sous l’égide de la Société française de neuropathologie, de la Société française de myologie et de l’Association française contre les myopathies

Uro-Soste, E.; Fernandez, Carla; Authier, François‐Jérôme; Bassez, Guillaume; Butori, Catherine; Chapon, Françoise; Mj, Delisle; Dubourg, Odile; Féasson, Léonard; Gherardi, Romain K.; Lacroix, Claire; Laquerrière, Annie; Letournel, Franck; Magy, Laurent; Maisonobe, Thierry; Marcorelles, Pascale; Maurage, C.A.; Mézin, P.; Mussini, Jean‐Marie; Pénisson-Besnier, I.; Romero, Nieto; Streichenberger, Nathalie; Vallat, Jean‐Michel; Viennet, G.; Vital, Anne; Voït, Thomas; Boucharef, W.; Figarella‐Branger, Dominique; Renseigné, Non

doi:10.1016/j.neurol.2010.03.015

Cited by 16 publications

(1 citation statement)

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“…All patients had open deltoid or quadriceps muscle biopsy. Muscle specimens were conventionally processed [ 3 , 27 ]. One muscle sample was flash-frozen in isopentane cooled by liquid nitrogen for histoenzymology and immunohistochemistry, another fixed in formaldehyde fixative for routine histology, and the last processed for electron microscopy.…”

Section: Methodsmentioning

confidence: 99%

Myofiber HLA-DR expression is a distinctive biomarker for antisynthetase-associated myopathy

Aouizerate

Antonio

Bassez

et al. 2014

acta neuropathol commun

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ObjectivesTo assess the value of major histocompatibility complex (MHC) class II antigen (HLA-DR) expression to distinguish anti-synthetase myopathy (ASM) from dermatomyositis (DM).MethodsMuscle biopsies from patients with ASM (n = 33), DM without anti-synthetase antibodies (ASAb) (n = 17), and normal muscle biopsy (n = 10) were first reviewed. ASAb included anti-Jo1 (26/33), anti-PL12 (4/33), anti-PL7 (2/33), and anti-EJ (1/33). Immunohistochemistry was performed for MHC-I/HLA-ABC, MHC-II/HLA-DR, membrane attack complex (C5b-9), neural cell adhesion molecule (NCAM)/CD56 expression, and inflammatory cell subsets. Twenty-four ASM and 12 DM patients from another center were added for HLA-DR evaluation.ResultsUbiquitous myofiber HLA-ABC expression was equally observed in ASM and DM (93.9% vs 100%, NS). In contrast, myofiber HLA-DR expression was found in 27/33 (81.8%) ASM (anti-Jo1: 23/26, 88.5%; others: 5/7, 71.4%) vs 4/17 (23.5%) DM patients (p < 0.001). HLA-DR was perifascicular in ASM, a pattern not observed in DM. In addition, C5b-9 deposition was observed on sarcolemma of non-necrotic perifascicular fibers in ASM, while, in DM, C5b-9was mainly detected in endomysial capillaries. CD8 cells were more abundant in ASM than in DM (p < 0.05), and electively located in perimysium or in perifascular endomysium. HLA-DR expression correlated positively with the CD8+ cells infiltrates. Strictly similar observations were made in the confirmatory study.ConclusionASM is characterized by strong myofiber MHC-II/HLA-DR expression with a unique perifascicular pattern, not described so far. HLA-DR detection must be included for routine myopathological diagnosis of inflammatory/dysimmune myopathies. HLA-DR expression in ASM may indicate a specific immune mechanism, possibly involving IFNγ.Electronic supplementary materialThe online version of this article (doi:10.1186/s40478-014-0154-2) contains supplementary material, which is available to authorized users.

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Section: Methodsmentioning

confidence: 99%

Myofiber HLA-DR expression is a distinctive biomarker for antisynthetase-associated myopathy

Aouizerate

Antonio

Bassez

et al. 2014

acta neuropathol commun

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Novel dominant distal titinopathy phenotype associated with copy number variation

Perrin

Morales

Chapon

et al. 2021

Ann Clin Transl Neurol

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The aim of this study was to analyze patients from two distinct families with a novel distal titinopathy phenotype associated with exactly the same CNV in the TTN gene. We used an integrated strategy combining deep phenotyping and complete molecular analyses in patients. The CNV is the most proximal out‐of‐frame TTN variant reported and leads to aberrant splicing transcripts leading to a frameshift. In this case, the dominant effect would be due to dominant‐negative and/or haploinsufficiency. Few CNV in TTN have been reported to date. Our data represent a novel phenotype–genotype association and provides hypotheses for its dominant effects.

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Diagnosis and management of Becker muscular dystrophy: the French guidelines

Magot,

Wahbi,

Leturcq

et al. 2023

J Neurol

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Becker muscular dystrophy (BMD) is one of the most frequent among neuromuscular diseases, affecting approximately 1 in 18,000 male births. It is linked to a genetic mutation on the X chromosome. In contrast to Duchenne muscular dystrophy, for which improved care and management have changed the prognosis and life expectancy of patients, few guidelines have been published for management of BMD. Many clinicians are inexperienced in managing the complications of this disease. In France, a committee of experts from a wide range of disciplines met in 2019 to establish recommendations, with the goal of improving care of patients with BMD. Here, we present the tools to provide diagnosis of BMD as quickly as possible and for differential diagnoses. Then, we describe the multidisciplinary approach essential for optimum management of BMD. We give recommendations for the initial assessment and follow-up of the neurological, respiratory, cardiac, and orthopedic consequences of males who present with BMD. Finally, we describe the optimal therapeutic management of these complications. We also provide guidance on cardiac management for female carriers.

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Prise en charge des biopsies musculaires et nerveuses. Recommandations formalisées d’experts sous l’égide de la Société française de neuropathologie, de la Société française de myologie et de l’Association française contre les myopathies

Cited by 16 publications

References 0 publications

Myofiber HLA-DR expression is a distinctive biomarker for antisynthetase-associated myopathy

Myofiber HLA-DR expression is a distinctive biomarker for antisynthetase-associated myopathy

Novel dominant distal titinopathy phenotype associated with copy number variation

Diagnosis and management of Becker muscular dystrophy: the French guidelines

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