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Acta neuropathologica |
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MEF2 impairment underlies skeletal muscle atrophy in polyglutamine disease
Nath SR, Lieberman ML, Yu Z, et al.
Acta neuropathologica, 2020
Revue : Acta neuropathologica Titre : MEF2 impairment underlies skeletal muscle atrophy in polyglutamine disease Type de document : Article Auteurs : Nath SR, Auteur ; Lieberman ML ; Yu Z ; Marchioretti C ; Jones ST ; Danby ECE ; Van Pelt KM ; Soraru G ; Robins DM ; Bates GP ; Pennuto M ; Lieberman AP Année de publication : 04/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32306066 / DOI : 10.1007/s00401-020-02156-4
N° Profil MNM : 2020042 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32306066 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Complement deposition at the neuromuscular junction in seronegative myasthenia gravis
Hoffmann S, Harms L, Schuelke M, et al.
Acta neuropathologica, 2020
Revue : Acta neuropathologica Titre : Complement deposition at the neuromuscular junction in seronegative myasthenia gravis Type de document : Article Auteurs : Hoffmann S, Auteur ; Harms L ; Schuelke M ; Ruckert JC ; Goebel HH ; Stenzel W ; Meisel A Editeur : Germany Année de publication : 03/2020 Langues : Anglais (eng) Résumé : The involvement of the complement system in the pathogenesis of myasthenia gravis (MG) depends on the IgG subtype. The serum anti-acetylcholine receptor antibody (AChR-ab, present in about 80% of all MG patients) essentially belongs to the IgG1 subtype and can, therefore, activate the classical complement pathway. In contrast, serum antibodies against the muscle-specific tyrosine kinase (MuSK-ab, present in about 3% of all MG patients) are mostly from the IgG4 subtype that do not activate the complement system [6, 12]. Other previously identified antibodies are directed against the lipoprotein-related protein 4 (LRP4-ab, present in 2% of all MG patients) [2]. Approximately, 15% of MG patients are termed “seronegative” (SNMG), meaning that no known serum antibodies can be detected. Clinicoserological diagnosis alone carries the risk of under-diagnosis, which may exclude SNMG patients from modern therapies: targeted complement inhibition (eculizumab) has recently been introduced in the treatment of AChR-ab-positive generalized MG patients who do not respond to standard treatment [5]. The aim of this study was to identify a reliable biomarker to justify complement-targeting therapies in SNMG.
To investigate the role of the complement system in SNMG, we performed a cross-sectional study in 11 patients with treatment-refractory SNMG who prospectively underwent external intercostal muscle biopsy. Furthermore, we retrospectively analyzed previously performed biopsies of deltoid muscles from two patients with SNMG. Diagnosis of SNMG was established as follows: (i) typical clinical presentation with fatigable muscle weakness that improves with rest and (ii) absence of detectable autoantibodies against AChR, MuSK (measured by enzyme-linked immunosorbent assay, ELISA) and LRP4 (measured by indirect immunofluorescence test, IIFT) in patients’ sera and (iii) abnormal results in repetitive nerve stimulation and/or single-fiber electromyography and/or (iv) clinical response to intravenous or oral acetylcholinesterase inhibitors. Generalized, treatment-refractory disease course was defined as follows: (i) Myasthenia Gravis Foundation of America (MGFA) classification ≥ II despite (ii) standard therapy consisting of acetylcholinesterase inhibitors, steroids, and long-term immunosuppressants and/or (iii) repeated need for intravenous immunoglobulins and/or plasmapheresis/immunoadsorption. Muscle specimens were analyzed by conventional and immunostaining, immunofluorescence and electron microscopy. The results were compared to ‘disease controls’ (i.e. patients with AChR-ab-positive MG) and ‘non-disease controls’ (i.e. patients with non-specific muscle complaints who had no morphological or serological abnormalities). In all patients, stains were done under standardized conditions using the same batches of antibodies. Endplates could be identified in all patients by staining with non-specific esterase (NSE), acetylcholine esterase (AChE) and CD56 (a neural cell adhesion molecule on the pre- and postsynaptic membrane). All patients gave written informed consent. All procedures were approved by the official institutional ethics review committee (EA2/163/17) at the Charité—University Hospital Berlin...Lien associé : Texte complet disponible sur le site de la revue Pubmed / DOI : Pubmed : 32157386 / DOI : 10.1007/s00401-020-02147-5
N° Profil MNM : 2020031 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32157386 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Intracellular calcium leak as a therapeutic target for RYR1-related myopathies
Kushnir A, Todd JJ, Witherspoon JW, et al.
Acta neuropathologica, 2020
Revue : Acta neuropathologica Titre : Intracellular calcium leak as a therapeutic target for RYR1-related myopathies Type de document : Article Auteurs : Kushnir A, Auteur ; Todd JJ ; Witherspoon JW ; Yuan Q ; Reiken S ; Lin H ; Munce RH ; Wajsberg B ; Melville Z ; Clarke OB ; Wedderburn-Pugh K ; Wronska A ; Razaqyar MS ; Chrismer IC ; Shelton MO ; Mankodi A ; Grunseich C ; Tarnopolsky MA ; Tanji K ; Hirano M ; Riazi S ; Kraeva N ; Voermans NC ; Gruber A ; Allen C ; Meilleur KG ; Marks AR Editeur : Germany Année de publication : 03/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32236737 / DOI : 10.1007/s00401-020-02150-w
N° Profil MNM : 2020041 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32236737 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Synaptotagmin 13 is neuroprotective across motor neuron diseases
Nizzardo M, Taiana M, Rizzo F, et al.
Acta neuropathologica, 2020
Revue : Acta neuropathologica Titre : Synaptotagmin 13 is neuroprotective across motor neuron diseases Type de document : Article Auteurs : Nizzardo M, Auteur ; Taiana M ; Rizzo F ; Aguila Benitez J ; Nijssen J ; Allodi I ; Melzi V ; Bresolin N ; Comi GP ; Hedlund E ; Corti S Editeur : Germany Année de publication : 02/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32065260 / DOI : 10.1007/s00401-020-02133-x
N° Profil MNM : 2020022 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32065260 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, alpha-dystroglycan hypoglycosylation and a distinctive radiological pattern
Servian-Morilla E, Cabrera-Serrano M, Johnson K, et al.
Acta neuropathologica, 2020
Revue : Acta neuropathologica Titre : POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, alpha-dystroglycan hypoglycosylation and a distinctive radiological pattern Type de document : Article Auteurs : Servian-Morilla E ; Cabrera-Serrano M ; Johnson K ; Pandey A ; Ito A ; Rivas E ; Chamova T ; Muelas N ; Mongini T ; Nafissi S ; Claeys KG ; Grewal RP ; Takeuchi M ; Hao H ; Bonnemann C ; Lopes Abath Neto O ; Medne L ; Brandsema J ; Töpf A ; Taneva A ; Vilchez JJ ; Tournev I ; Haltiwanger RS ; Takeuchi H ; Jafar-Nejad H ; Straub V ; Paradas C Editeur : Germany Année de publication : 01/2020 Langues : Anglais (eng) Mots-clés : dystrophie musculaire ; dystrophie musculaire des ceintures ; LGMD R21 liee au gene POGLUT1 ; maladie neuromusculaire Pubmed / DOI : Pubmed : 31897643 / DOI : 10.1007/s00401-019-02117-6
N° Profil MNM : 2020011 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31897643 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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ALS/FTD mutant CHCHD10 mice reveal a tissue-specific toxic gain-of-function and mitochondrial stress response
Anderson CJ, Bredvik K, Burstein SR, et al.
Acta neuropathologica, 2019, 138, 1, p 103
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Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10(S59L/+) mouse
Genin EC, Madji Hounoum B, Bannwarth S, et al.
Acta neuropathologica, 2019, 138, 1, p 123
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Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy.
Ross JA, Levy Y, Ripolone M, et al.
Acta neuropathologica, 2019
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ACTN2 mutations cause "Multiple structured Core Disease" (MsCD)
Lornage X, Romero NB, Grosgogeat CA, et al.
Acta neuropathologica, 2019, 137, 3, p 501
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Collagen VI is required for the structural and functional integrity of the neuromuscular junction
Cescon M, Gregorio I, Eiber N, et al.
Acta neuropathologica, 2018
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CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy
Böhm J, Lornage X, Chevessier F, et al.
Acta neuropathologica, 2018, 135, 1, p 149
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Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Schartner V, Romero NB, Donkervoort S, et al.
Acta neuropathologica, 2017, 133, 4, p 517
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HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy
Echaniz-Laguna A, Lornage X, Lannes B, et al.
Acta neuropathologica, 2017, 134, 1, p 163
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IFN-beta-induced reactive oxygen species and mitochondrial damage contribute to muscle impairment and inflammation maintenance in dermatomyositis
Meyer A, Laverny G, Allenbach Y, et al.
Acta neuropathologica, 2017, 134, 4, p 655
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Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
Biancalana V, Scheidecker S, Miguet M, et al.
Acta neuropathologica, 2017, 134, 6, p 889
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Muscle satellite cells are functionally impaired in myasthenia gravis: consequences on muscle regeneration
Attia M, Maurer M, Robinet M, et al.
Acta neuropathologica, 2017, 134, 6, p 869
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Intraneuronal aggregation of the Beta-CTF fragment of APP (C99) induces ABeta-independent lysosomal-autophagic pathology
Lauritzen I, Pardossi-Piquard R, Bourgeois A, et al.
Acta neuropathologica, 2016, 132, 2, p 257
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Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects
Straussberg R, Schottmann G, Sadeh M, et al.
Acta neuropathologica, 2016, 132, 3, p 475
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The toxic effect of R350P mutant desmin in striated muscle of man and mouse
Clemen CS, Stöckigt F, Strucksberg KH, et al.
Acta neuropathologica, 2015, 129, 2, p 297
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Danon disease: a phenotypic expression of LAMP-2 deficiency
Endo Y, Furuta A, Nishino I
Acta neuropathologica, 2015, 129, 3, p 391
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X-linked myopathy with excessive autophagy: a failure of self-eating
Dowling JJ, Moore SA, Kalimo H, et al.
Acta neuropathologica, 2015, 129, 3, p 383
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Amyloid deposits and inflammatory infiltrates in sporadic inclusion body myositis: the inflammatory egg comes before the degenerative chicken
Benveniste O, Stenzel W, Hilton-Jones D, et al.
Acta neuropathologica, 2015, 129, 5, p 611
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The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice
Alves S, Cormier-Dequaire F, Marinello M, et al.
Acta neuropathologica, 2014, 128, 5, p 705
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Desminopathies : pathology and mechanisms
Clemen CS, Herrmann H, Strelkov SV, et al.
Acta neuropathologica, 2013, 125, 1, p. 47-75
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Myosinopathies : pathology and mechanisms
Tajsharghi H, Oldfors A
Acta neuropathologica, 2013, 125, 1, p. 3-18
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