189 results on '"Pellissier JF"'
Search Results
2. Excimer laser irradiation of non-calcified and calcified human atheroma (248 and 308nm wavelengths)
- Author
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Piquet, P., Bournot, P., Caminat, P., Pellissier, JF., and Mercier, C.
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- 1992
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3. Systemic amyloidosis AL with temporal artery involvement revealing lymphoplasmacytic malignancy in a man presenting as polymyalgia rheumatica
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Horschowsky N, Pellissier Jf, Dominique Figarella-Branger, E. Senbel, P. C. Acquaviva, J. Boucraut, and Pierre Lafforgue
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musculoskeletal diseases ,Male ,Pathology ,medicine.medical_specialty ,Amyloid ,Immunology ,Malignancy ,Immunoglobulin light chain ,General Biochemistry, Genetics and Molecular Biology ,Polymyalgia rheumatica ,Diagnosis, Differential ,Rheumatology ,Muscular Diseases ,immune system diseases ,Immunology and Allergy ,Medicine ,Humans ,Aged ,business.industry ,Amyloidosis ,medicine.disease ,Hematologic Diseases ,Temporal Arteries ,Cardiac amyloidosis ,Polymyalgia Rheumatica ,Temporal artery ,Differential diagnosis ,business ,Research Article - Abstract
A 68 year old man presented with a clinical and biological picture that suggested polymyalgia rheumatica. Temporal artery biopsy disclosed no inflammatory change but massive light chain amyloid deposits in the media. Further exploration showed a malignant lymphoplasmacytic haemopathy with a triclonal gammopathy and a muscular, rectal, and probable cardiac amyloidosis. Cryoglobulinaemia and high concentrations of soluble interleukin 2 receptor (sIL-2R) were also found. This is the fifth case with confirmed involvement of the temporal artery. The especially high sIL-2R concentration was thought to reflect the tumour mass rather than lymphocyte activation.
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- 1993
4. Correlation of clinicoserologic and pathologic classifications of inflammatory myopathies: study of 178 cases and guidelines for diagnosis.
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Fernandez C, Bardin N, De Paula AM, Salort-Campana E, Benyamine A, Franques J, Schleinitz N, Weiller PJ, Pouget J, Pellissier JF, Figarella-Branger D, Fernandez, Carla, Bardin, Nathalie, De Paula, André Maues, Salort-Campana, Emmanuelle, Benyamine, Audrey, Franques, Jérôme, Schleinitz, Nicolas, Weiller, Pierre-Jean, and Pouget, Jean
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- 2013
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5. Block of neural Kv1.1 potassium channels for neuroinflammatory disease therapy.
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Beraud E, Viola A, Regaya I, Confort-Gouny S, Siaud P, Ibarrola D, Le Fur Y, Barbaria J, Pellissier JF, Sabatier JM, Medina I, and Cozzone PJ
- Published
- 2006
6. Diagnostic evaluation of clinically normal subjects with chronic hyperCKemia.
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Fernandez C, de Paula AM, Figarella-Branger D, Krahn M, Giorgi R, Chabrol B, Monfort MF, Pouget J, and Pellissier JF
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- 2006
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7. Diagnostic evaluation of clinically normal subjects with chronic hyperCKemia.
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Walker RH, Peters JJ, Jung HH, Danek A, Fernandez C, Figarella-Branger D, Maues De Paula A, and Pellissier JF
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- 2007
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8. IMMUNOHISTOCHEMICAL LOCALIZATION OF CYTOKINES, C5B-9 AND ICAM-1 IN PERIPHERAL NERVE OF GUILLAIN-BARRE SYNDROME.
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Putzu, Ga, Figarella-Branger, D, Bouvier-Labit, C, Liprandi, A, Bianco, N, and Pellissier, Jf
- Abstract
The spectrum of the Guillain-Barre Syndrome (GBS) has recently been widened by the newly identified forms of acute motor axonal neuropathy (AMAN) and acute motor sensory axonal neuropathy (AMSAN). An important question has been raised regarding the possibility for the axon to be a target in immune-mediated damage. Although myelin breakdown is the characteristic feature of classic acute inflammatory demyelinating polyradiculoneuropathy (AIDP), axonal degeneration may occasionally be observed in this form, especially in cases with explosive onset and severe clinical course. Immunohistochemical findings of five frozen sural nerves biopsies of patients with GBS (AIDP variant) tested with a panel of monoclonal antibodies raised against different molecules implicated in immune-mediated processes have principally disclosed an immunoreactivity of tumor necrosis factor-alpha (TNF-alpha) on both Schwann cell membranes and in myelinated and unmyelinated axons. On the other hand, interleukin 1-beta (IL1-beta) labeled Schwann cells, endothelial cells and macrophages; interferon-gamma (IFN-gamma) was observed both in endothelial cells and lymphocytes. Membrane attack complex (C5b-9) deposits were observed on Schwann cell membranes and finally intercellular adhesion molecule-1 (ICAM-1) was localized both on endothelial cells and macrophages. Our findings strongly suggest that TNF-alpha is an important factor in the cascade of events leading to immune-mediated demyelination and axonal damage in GBS. [ABSTRACT FROM AUTHOR]
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- 2000
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9. MATTERS ARISING: Tassinari et al reply:.
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Tassinari, CA, Michelucci, R, Genton, P, Pellissier, JF, and Roger, J
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- 1990
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10. VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.
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Ramachandran N, Munteanu I, Wang P, Ruggieri A, Rilstone JJ, Israelian N, Naranian T, Paroutis P, Guo R, Ren ZP, Nishino I, Chabrol B, Pellissier JF, Minetti C, Udd B, Fardeau M, Tailor CS, Mahuran DJ, Kissel JT, Kalimo H, Levy N, Manolson MF, Ackerley CA, and Minassian BA
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- Animals, Cells, Cultured, Humans, Hydrogen-Ion Concentration, Leucine metabolism, Lysosomal Storage Diseases pathology, Lysosomes genetics, Lysosomes metabolism, Male, Mice, Muscle, Skeletal metabolism, Muscle, Skeletal pathology, Muscle, Skeletal ultrastructure, Muscular Diseases pathology, Mutation genetics, RNA Interference physiology, RNA, Messenger genetics, Saccharomyces cerevisiae genetics, Saccharomyces cerevisiae metabolism, Saccharomyces cerevisiae Proteins genetics, Saccharomyces cerevisiae Proteins metabolism, Subcellular Fractions metabolism, Subcellular Fractions pathology, Time Factors, Vacuoles metabolism, Adenosine Triphosphatases metabolism, Autophagy genetics, Lysosomal Storage Diseases genetics, Lysosomal Storage Diseases prevention & control, Muscular Diseases genetics, Muscular Diseases prevention & control, Vacuolar Proton-Translocating ATPases deficiency, Vacuolar Proton-Translocating ATPases genetics
- Abstract
X-linked Myopathy with Excessive Autophagy (XMEA) is a childhood onset disease characterized by progressive vacuolation and atrophy of skeletal muscle. We show that XMEA is caused by hypomorphic alleles of the VMA21 gene, that VMA21 is the diverged human ortholog of the yeast Vma21p protein, and that like Vma21p, VMA21 is an essential assembly chaperone of the vacuolar ATPase (V-ATPase), the principal mammalian proton pump complex. Decreased VMA21 raises lysosomal pH which reduces lysosomal degradative ability and blocks autophagy. This reduces cellular free amino acids which leads to downregulation of the mTORC1 pathway, and consequent increased macroautophagy resulting in proliferation of large and ineffective autolysosomes that engulf sections of cytoplasm, merge, and vacuolate the cell. Our results uncover a novel mechanism of disease, namely macroautophagic overcompensation leading to cell vacuolation and tissue atrophy.
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- 2013
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11. Cerebral biochemical pathways in experimental autoimmune encephalomyelitis and adjuvant arthritis: a comparative metabolomic study.
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Lutz NW, Fernandez C, Pellissier JF, Cozzone PJ, and Béraud E
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- Animals, Arthritis, Experimental chemically induced, Brain pathology, Encephalomyelitis, Autoimmune, Experimental chemically induced, Female, Freund's Adjuvant, Metabolomics, Phospholipids metabolism, Rats, Rats, Inbred Lew, Spinal Cord metabolism, Spinal Cord pathology, Water metabolism, Arthritis, Experimental metabolism, Arthritis, Experimental pathology, Brain metabolism, Encephalomyelitis, Autoimmune, Experimental metabolism, Encephalomyelitis, Autoimmune, Experimental pathology, Metabolic Networks and Pathways
- Abstract
Many diseases, including brain disorders, are associated with perturbations of tissue metabolism. However, an often overlooked issue is the impact that inflammations outside the brain may have on brain metabolism. Our main goal was to study similarities and differences between brain metabolite profiles of animals suffering from experimental autoimmune encephalomyelitis (EAE) and adjuvant arthritis (AA) in Lewis rat models. Our principal objective was the determination of molecular protagonists involved in the metabolism underlying these diseases. EAE was induced by intraplantar injection of complete Freund's adjuvant (CFA) and spinal-cord homogenate (SC-H), whereas AA was induced by CFA only. Naive rats served as controls (n = 9 for each group). Two weeks after inoculation, animals were sacrificed, and brains were removed and processed for metabolomic analysis by NMR spectroscopy or for immunohistochemistry. Interestingly, both inflammatory diseases caused similar, though not identical, changes in metabolites involved in regulation of brain cell size and membrane production: among the osmolytes, taurine and the neuronal marker, N-acetylaspartate, were decreased, and the astrocyte marker, myo-inositol, slightly increased in both inoculated groups compared with controls. Also ethanolamine-containing phospholipids, sources of inflammatory agents, and several glycolytic metabolites were increased in both inoculated groups. By contrast, the amino acids, aspartate and isoleucine, were less concentrated in CFA/SC-H and control vs. CFA rats. Our results suggest that inflammatory brain metabolite profiles may indicate the existence of either cerebral (EAE) or extra-cerebral (AA) inflammation. These inflammatory processes may act through distinct pathways that converge toward similar brain metabolic profiles. Our findings open new avenues for future studies aimed at demonstrating whether brain metabolic effects provoked by AA are pain/stress-mediated and/or due to the presence of systemic proinflammatory molecules. Regardless of the nature of these mechanisms, our findings may be of interest for future clinical studies, e.g. by in-vivo magnetic resonance spectroscopy.
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- 2013
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12. Further heterogeneity in myopathy with tubular aggregates?
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De Paula AM, Bartoli M, Courrier S, Pouget J, Levy N, Pellissier JF, Figarella-Branger D, Krahn M, and Attarian S
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- Humans, Microtubules ultrastructure, NADH Dehydrogenase metabolism, Sarcolemma pathology, Microtubules pathology, Muscle, Skeletal pathology, Muscle, Skeletal ultrastructure, Muscular Diseases pathology, Sarcolemma ultrastructure
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- 2012
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13. Sporadic diffuse leucoencephalopathy with axonal spheroids: report of a profuse and rapid cortical-spinal degeneration.
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De Paula AM, Michel B, Dickson DW, Wszolek ZK, and Pellissier JF
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- Amyloid beta-Protein Precursor metabolism, Humans, Leukoencephalopathies metabolism, Magnetic Resonance Imaging, Male, Middle Aged, Neurofilament Proteins metabolism, alpha-Synuclein metabolism, tau Proteins metabolism, Axons pathology, Cerebral Cortex pathology, Leukoencephalopathies complications, Spinal Diseases complications
- Abstract
Diffuse leucoencephalopathy with axonal spheroids (DLS) is a rare disease affecting the white matter leading to dementia and progressive motor impairment. The neuropathological hallmark includes axonal swelling and spheroids as well as myelin loss. We report a case of a 46-year-old man with memory deficit and behavioral changes followed by a rapid cognitive decline and pyramidal syndrome. Head magnetic resonance imaging showed cortical atrophy of the brain and symmetric corticospinal tract involvement. He died 4 years after the first symptoms. Autopsy was performed and the brain revealed cortical and corpus callosum atrophy, a grayish granular appearance of the white matter and ventricular enlargement. Myelin stains showed a significant demyelination of the centrum ovale and corticospinal tract. Such degeneration was accompanied by axonal loss, axonal swelling, and numerous spheroids. There was no pigment overload or inflammation. We discuss this new DLS case with bilateral, severe, and rapid cortical-spinal involvement.
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- 2012
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14. The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.
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Rouzier C, Bannwarth S, Chaussenot A, Chevrollier A, Verschueren A, Bonello-Palot N, Fragaki K, Cano A, Pouget J, Pellissier JF, Procaccio V, Chabrol B, and Paquis-Flucklinger V
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- Adolescent, Adult, Child, DNA Damage, DNA, Mitochondrial metabolism, Female, GTP Phosphohydrolases metabolism, Humans, Male, Middle Aged, Mitochondrial Myopathies complications, Mitochondrial Myopathies metabolism, Mitochondrial Proteins metabolism, Mutation, Missense, Optic Atrophy complications, Optic Atrophy metabolism, Pedigree, DNA, Mitochondrial genetics, GTP Phosphohydrolases genetics, Mitochondrial Myopathies genetics, Mitochondrial Proteins genetics, Optic Atrophy genetics
- Abstract
MFN2 and OPA1 genes encode two dynamin-like GTPase proteins involved in the fusion of the mitochondrial membrane. They have been associated with Charcot-Marie-Tooth disease type 2A and autosomal dominant optic atrophy, respectively. We report a large family with optic atrophy beginning in early childhood, associated with axonal neuropathy and mitochondrial myopathy in adult life. The clinical presentation looks like the autosomal dominant optic atrophy 'plus' phenotype linked to OPA1 mutations but is associated with a novel MFN2 missense mutation (c.629A>T, p.D210V). Multiple mitochondrial DNA deletions were found in skeletal muscle and this observation makes MFN2 a novel gene associated with 'mitochondrial DNA breakage' syndrome. Contrary to previous studies in patients with Charcot-Marie-Tooth disease type 2A, fibroblasts carrying the MFN2 mutation present with a respiratory chain deficiency, a fragmentation of the mitochondrial network and a significant reduction of MFN2 protein expression. Furthermore, we show for the first time that impaired mitochondrial fusion is responsible for a deficiency to repair stress-induced mitochondrial DNA damage. It is likely that defect in mitochondrial DNA repair is due to variability in repair protein content across the mitochondrial population and is at least partially responsible for mitochondrial DNA instability.
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- 2012
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15. Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.
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Lehtokari VL, Pelin K, Herczegfalvi A, Karcagi V, Pouget J, Franques J, Pellissier JF, Figarella-Branger D, von der Hagen M, Huebner A, Schoser B, Lochmüller H, and Wallgren-Pettersson C
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- Adolescent, Biopsy, Child, Diagnosis, Differential, Distal Myopathies pathology, Female, France, Humans, Hungary, Male, Middle Aged, Muscle, Skeletal pathology, Myopathies, Nemaline pathology, Distal Myopathies diagnosis, Muscle Proteins genetics, Mutation genetics, Myopathies, Nemaline diagnosis, Myopathies, Nemaline genetics
- Abstract
Mutations in the nebulin gene are the main cause of autosomal recessive nemaline myopathy, with clinical presentations ranging from mild to severe disease. We have previously reported a nonspecific distal myopathy caused by homozygous missense mutations in the nebulin gene in six Finnish patients from four different families. Here we describe three non-Finnish patients in two unrelated families with distal nemaline myopathy caused by four different compound heterozygous nebulin mutations, only one of which is a missense mutation. One of the mutations has previously been identified in one family with the severe form of nemaline myopathy. We conclude that nemaline myopathy and distal myopathy caused by nebulin mutations form a clinical and histological continuum. Nemaline myopathy should be considered as a differential diagnosis in patients presenting with an early-onset predominantly distal myopathy., (Copyright © 2011 Elsevier B.V. All rights reserved.)
- Published
- 2011
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16. Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity.
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Claeys KG, Pellissier JF, Garcia-Bragado F, Weis J, Urtizberea A, Poza JJ, Cobo AM, Stoltenburg G, Figarella-Branger D, Willems PJ, Depuydt CE, Kleiner W, Pouget J, Piraud M, Brochier G, Romero NB, Fardeau M, Goebel HH, Bönnemann CG, Voit T, Eymard B, and Laforêt P
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- Adolescent, Adult, Age of Onset, Blotting, Western, Caveolin 3 genetics, Caveolin 3 metabolism, Creatine Kinase blood, Exercise, Female, Humans, Immunohistochemistry, Male, Middle Aged, Muscle Weakness genetics, Muscle Weakness metabolism, Muscle, Skeletal metabolism, Muscular Diseases genetics, Muscular Diseases metabolism, Phenotype, Muscle Weakness pathology, Muscle, Skeletal pathology, Muscular Diseases pathology
- Abstract
A novel myopathy characterized by hexagonally cross-linked tubular arrays has been reported in five patients. We studied the clinical and histopathological features of five additional unrelated patients with this myopathy. Patients experienced exercise intolerance with exercise-induced myalgia and weakness, without rhabdomyolysis. One patient additionally presented mild permanent pelvic girdle muscle weakness. Age at onset varied between 13 and 56 years. The inclusions were eosinophilic on H and E, bright red with modified Gomori's trichrome stains, present in type 2 fibers, and revealed immunoreactivity selectively for a caveolin-3-antibody. Ultrastructurally, the inclusions showed a highly organized, hexagonally cross-linked crystalloid structure. Mutations in the caveolin-3 encoding gene were excluded. Biochemical assessment of glycogenolysis in muscle was normal. Inherited or sporadic myopathy with hexagonally cross-linked tubular arrays is associated with a homogeneous clinical and histopathological phenotype. This myopathy should be included in the differential diagnosis of patients with exercise intolerance and myalgia., (Copyright © 2010 Elsevier B.V. All rights reserved.)
- Published
- 2010
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17. The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.
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Rouzier C, Le Guédard-Méreuze S, Fragaki K, Serre V, Miro J, Tuffery-Giraud S, Chaussenot A, Bannwarth S, Caruba C, Ostergaard E, Pellissier JF, Richelme C, Espil C, Chabrol B, and Paquis-Flucklinger V
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- Amino Acid Sequence, Child, Fatal Outcome, Humans, Infant, Male, Methylmalonic Acid blood, Mitochondrial Encephalomyopathies mortality, Models, Molecular, Molecular Sequence Data, Mutation, Missense, Phenotype, Succinate-CoA Ligases chemistry, Succinate-CoA Ligases deficiency, Succinate-CoA Ligases metabolism, Methylmalonic Acid urine, Mitochondrial Encephalomyopathies genetics, Mitochondrial Encephalomyopathies physiopathology, Mutation, Severity of Illness Index, Succinate-CoA Ligases genetics
- Abstract
Background: Succinate-CoA ligase deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Mutations in SUCLA2, the gene encoding a β subunit of succinate-CoA ligase, have been reported in 17 patients until now. Mutations in SUCLG1, encoding the α subunit of the enzyme, have been described in two pedigrees only., Methods and Findings: In this study, two unrelated patients harbouring three novel pathogenic mutations in SUCLG1 were reported. The first patient had a severe disease at birth. He was compound heterozygous for a missense mutation (p.Pro170Arg) and a c.97+3G>C mutation, which leads to the complete skipping of exon 1 in a minigene expression system. The involvement of SUCLG1 was confirmed by western blot analysis, which showed absence of SUCLG1 protein in fibroblasts. The second patient has a milder phenotype, similar to that of patients with SUCLA2 mutations, and is still alive at 12 years of age. Western blot analysis showed some residual SUCLG1 protein in patient's fibroblasts., Conclusions: Our results suggest that SUCLG1 mutations that lead to complete absence of SUCLG1 protein are responsible for a very severe disorder with antenatal manifestations, whereas a SUCLA2-like phenotype is found in patients with residual SUCLG1 protein. Furthermore, it is shown that in the absence of SUCLG1 protein, no SUCLA2 protein is found in fibroblasts by western blot analysis. This result is consistent with a degradation of SUCLA2 when its heterodimer partner, SUCLG1, is absent.
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- 2010
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18. Lethal injection of potassium chloride: first description of the pathological appearance of organs.
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Coulibaly B, Piercecchi-Marti MD, Bartoli C, Liprandi A, Léonetti G, and Pellissier JF
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- Aborted Fetus pathology, Abortion, Eugenic methods, Abortion, Induced methods, Adrenal Glands drug effects, Adrenal Glands embryology, Adrenal Glands pathology, Female, Fetal Heart drug effects, Fetal Heart embryology, Fetal Heart pathology, Humans, Kidney drug effects, Kidney embryology, Kidney pathology, Lidocaine administration & dosage, Pancreas drug effects, Pancreas embryology, Pancreas pathology, Potassium Chloride administration & dosage, Potassium Chloride pharmacokinetics, Pregnancy, Sufentanil administration & dosage, Forensic Pathology methods, Postmortem Changes, Potassium Chloride poisoning
- Abstract
Lethal injection of potassium chloride (KCl) can be used as a method of either suicide or homicide. As biological tests are still inadequate to differentiate endogenous from exogenous potassium, at the scene of death the cause can only be suspected. We wished to determine the usefulness of conventional pathological examination in this context and carried out a study in four fetuses after medical termination of pregnancy for serious disease. Pregnancy was terminated by KCl injection in two cases and by injection of lidocaine and sufentanil in the other two cases. In each of the two fetuses in which KCl injection was performed, macroscopic examination showed whitish deposits on the tissues and histological examination showed clumps of lanceolate crystals in the internal organs. In the two fetuses which received lidocaine and sufentanil injection, no deposits were visible on macroscopic examination and no crystals were seen on histological examination. These findings suggest that pathological study may have useful applications in forensic medicine when death by potassium injection is suspected., (2009 John Wiley & Sons, Ltd.)
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- 2010
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19. Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations.
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Fernandez C, Halbert C, De Paula AM, Lacroze V, Froissart R, Figarella-Branger D, Chabrol B, and Pellissier JF
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- Biopsy, Female, Genotype, Glycogen Storage Disease Type IV diagnosis, Humans, Infant, Muscle, Skeletal pathology, Neuromuscular Diseases diagnosis, 1,4-alpha-Glucan Branching Enzyme genetics, Glycogen Storage Disease Type IV genetics, Mutation, Missense genetics, Neuromuscular Diseases genetics
- Abstract
We report a recent case of the severe congenital variant of glycogen storage disease type IV with prolonged survival. The patient was found to be a compound heterozygote for two novel mutations, a missense mutation in exon 5 (p.H188P, c.563A>C) and a severe mutation in intron 5 (c.691+2T>C). We propose that the genotype and the quality of medical care may account for the severe but non-lethal phenotype.
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- 2010
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20. Interpretation of neuropathological lesions: its limitations in medico-legal experts' reports.
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Piercecchi-Marti MD, De Paula AM, Gavaudan G, Bartoli C, Pelissier-Alicot AL, Leonetti G, and Pellissier JF
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- Aged, 80 and over, Amyloid beta-Peptides immunology, Autoantibodies analysis, Cerebral Amyloid Angiopathy pathology, Documentation, Female, Humans, Immunohistochemistry, Neurofibrillary Tangles pathology, Neurons pathology, Neuropsychological Tests, Organ Size, Plaque, Amyloid pathology, Alzheimer Disease pathology, Brain pathology, Forensic Pathology legislation & jurisprudence
- Abstract
Aggressive or paradoxical behaviour may reflect an organic dementia. The most frequent is Alzheimer's disease, which results from an abnormal structural conformation of tubulin-associated protein (tau) and beta-amyloid protein that, respectively, aggregate in certain neurons as intracellular neurofibrillary tangles (NFTs) and in the extracellular environment as senile plaques. These lesions progress in the brain tissue according to the stages described by Braak and Braak. Staging of neurofibrillary pathology has proven anatomical and clinical correlation, which can be used in a medico-legal procedure. We report two cases demonstrating discrepancies between anatomical and clinical features, which should encourage medical expert to prudence when interpreting neuropathological reports., (2009 Elsevier Ireland Ltd. All rights reserved.)
- Published
- 2010
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21. A TPM3 mutation causing cap myopathy.
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De Paula AM, Franques J, Fernandez C, Monnier N, Lunardi J, Pellissier JF, Figarella-Branger D, and Pouget J
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- Adult, Child, DNA Mutational Analysis, Disease Progression, Humans, Male, Muscle, Skeletal pathology, Muscle, Skeletal ultrastructure, Muscular Diseases pathology, Point Mutation, White People, Muscular Diseases genetics, Tropomyosin genetics
- Abstract
Cap disease is a rare congenital myopathy associated with skeletal malformations and respiratory involvement. Abnormally arranged myofibrils taking the appearance of a "cap" are the morphological hallmark of this entity. We report a case of cap disease concerning a 42-year-old man, without any family history and presenting a p.Arg168His mutation on the TPM3 gene. His first biopsy at 7years had only shown selective type I hypotrophy. Mutations of TPM3 gene have been found in nemaline myopathy, congenital fiber type disproportion, but never before in cap disease.
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- 2009
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22. VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification.
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Ramachandran N, Munteanu I, Wang P, Aubourg P, Rilstone JJ, Israelian N, Naranian T, Paroutis P, Guo R, Ren ZP, Nishino I, Chabrol B, Pellissier JF, Minetti C, Udd B, Fardeau M, Tailor CS, Mahuran DJ, Kissel JT, Kalimo H, Levy N, Manolson MF, Ackerley CA, and Minassian BA
- Subjects
- Autophagy, Humans, Lysosomes metabolism, Membrane Proteins metabolism, RNA, Messenger metabolism, Saccharomyces cerevisiae Proteins metabolism, Vacuolar Proton-Translocating ATPases genetics, Genes, X-Linked, Muscular Diseases genetics, Vacuolar Proton-Translocating ATPases metabolism
- Abstract
X-linked myopathy with excessive autophagy (XMEA) is a childhood-onset disease characterized by progressive vacuolation and atrophy of skeletal muscle. We show that XMEA is caused by hypomorphic alleles of the VMA21 gene, that VMA21 is the diverged human ortholog of the yeast Vma21p protein, and that like Vma21p it is an essential assembly chaperone of the V-ATPase, the principal mammalian proton pump complex. Decreased VMA21 raises lysosomal pH, which reduces lysosomal degradative ability and blocks autophagy. This reduces cellular free amino acids, which upregulates the mTOR pathway and mTOR-dependent macroautophagy, resulting in proliferation of large and ineffective autolysosomes that engulf sections of cytoplasm, merge together, and vacuolate the cell. Our results uncover macroautophagic overcompensation leading to cell vacuolation and tissue atrophy as a mechanism of disease.
- Published
- 2009
- Full Text
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23. Rapid diagnosis of human prion disease using streptomycin with tonsil and brain tissues.
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Quadrio I, Ugnon-Café S, Dupin M, Esposito G, Streichenberger N, Krolak-Salmon P, Vital A, Pellissier JF, Perret-Liaudet A, and Perron H
- Subjects
- Humans, Sensitivity and Specificity, Brain metabolism, Creutzfeldt-Jakob Syndrome diagnosis, Palatine Tonsil metabolism, PrPSc Proteins metabolism, Prion Diseases diagnosis, Streptomycin
- Abstract
The use of streptomycin in the pathological prion protein (PrP(sc)) detection procedures represents a new and attractive way for diagnostic purpose. With this agent, western blot readily detected PrP(sc) in 263K scrapie hamster and C57Bl/6 wild-type mice challenged with C506M3 scrapie strain. Our aim was to evaluate this new diagnosis procedure in the field of human transmissible spongiform encephalopathies (TSEs). First, we had confirmed the ability of streptomycin to precipitate PrP(res) from human brain of Creutzfeldt-Jakob disease (CJD) patient. Second, we compared the detection of PrP(res) with streptomycin against three other protocols using other precipitations. Then we assessed PrP(res) detection with streptomycin in 98 brain tissue samples from various aetiologies of human TSEs and 52 brain samples from other dementia. Finally, we applied this protocol for tonsils examination of five patients suspected of variant CJD (v-CJD). Sensitivity and specificity obtained with the streptomycin protocol were both 100% on brain tissue. For tonsil tissues, PrP(res) was clearly identified in the two post-mortem confirmed v-CJD cases, whereas no characteristic three-band pattern was seen in the three confirmed non-v-CJD samples. In this study, streptomycin demonstrated its efficiency to detect PrP(res) both in the central nervous system and in the lymphoid tissue without practical difficulty and with rapid preparation. Because of its ability to act as a good agent for PrP(sc) examination in different tissues, recovery of PrP(sc) in biological fluids using streptomycin should open further perspectives of applications in CJD diagnostics. Streptomycin effects in vivo might thus also be questioned.
- Published
- 2009
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24. Analysis of the DYSF mutational spectrum in a large cohort of patients.
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Krahn M, Béroud C, Labelle V, Nguyen K, Bernard R, Bassez G, Figarella-Branger D, Fernandez C, Bouvenot J, Richard I, Ollagnon-Roman E, Bevilacqua JA, Salvo E, Attarian S, Chapon F, Pellissier JF, Pouget J, Hammouda el H, Laforêt P, Urtizberea JA, Eymard B, Leturcq F, and Lévy N
- Subjects
- Adolescent, Adult, Aged, Cohort Studies, DNA Mutational Analysis, Dysferlin, Female, Humans, Male, Middle Aged, Muscular Dystrophies diagnosis, Muscular Dystrophies genetics, Membrane Proteins genetics, Muscle Proteins genetics, Mutation genetics
- Abstract
Dysferlinopathies belong to the heterogeneous group of autosomal recessive muscular dystrophies. Mutations in the gene encoding dysferlin (DYSF) lead to distinct phenotypes, mainly Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM). Here, we analysed the mutational data from the largest cohort described to date, a cohort of 134 patients, included based on clinical suspicion of primary dysferlinopathy and/or dysferlin protein deficiency identified on muscle biopsy samples. Data were compiled from 38 patients previously screened for mutations in our laboratory (Nguyen, et al., 2005; Nguyen, et al., 2007), and 96 supplementary patients screened for DYSF mutations using genomic DHPLC analysis, and subsequent sequencing of detected variants, in a routine diagnostic setting. In 89 (66%) out of 134 patients, molecular analysis identified two disease causing mutations, confirming the diagnosis of primary Dysferlinopathy on a genetic basis. Furthermore, one mutation was identified in 30 patients, without identification of a second deleterious allele. We are currently developing complementary analysis for patients in whom only one or no disease-causing allele could be identified using the genomic screening procedure. Altogether, 64 novel mutations have been identified in this cohort, which corresponds to approximately 25% of all DYSF mutations reported to date. The mutational spectrum of this cohort significantly shows a higher proportion of nonsense mutations, but a lower proportion of deleterious missense changes as compared to previous series. (c) 2008 Wiley-Liss, Inc., ((c) 2008 Wiley-Liss, Inc.)
- Published
- 2009
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25. Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation.
- Author
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Uro-Coste E, Arné-Bes MC, Pellissier JF, Richard P, Levade T, Heitz F, Figarella-Branger D, and Delisle MB
- Subjects
- Amino Acid Substitution genetics, Cardiomyopathies congenital, Cardiomyopathies genetics, Cardiomyopathies physiopathology, DNA Mutational Analysis, Female, Genetic Variation genetics, Genotype, Heart physiopathology, Humans, Leucine genetics, Middle Aged, Muscle Hypotonia congenital, Muscle Hypotonia genetics, Muscle Hypotonia physiopathology, Muscle, Skeletal metabolism, Muscle, Skeletal pathology, Muscular Diseases metabolism, Myocardium metabolism, Myocardium pathology, Phenotype, Proline genetics, Young Adult, Cardiac Myosins genetics, Genetic Predisposition to Disease genetics, Muscle, Skeletal physiopathology, Muscular Diseases genetics, Muscular Diseases physiopathology, Mutation genetics, Myosin Heavy Chains genetics
- Abstract
Myosin Storage Myopathies (MSM) have emerged as a new group of inherited myopathies with heterogenous clinical severity and age of onset. We have identified in a woman and her daughter, a pLeu1793Pro mutation in MYH7. This mutation has already been reported to be associated with MSM presenting as neonatal hypotony. Our index case complained of proximal muscle weakness at age 30. Her daughter presented at birth with a cardiomyopathy without any skeletal muscle involvement. This report underlines the clinical variability of MSM even with a given mutation or in a same family.
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- 2009
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26. Type 2 myotonic dystrophy can be predicted by the combination of type 2 muscle fiber central nucleation and scattered atrophy.
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Bassez G, Chapoy E, Bastuji-Garin S, Radvanyi-Hoffman H, Authier FJ, Pellissier JF, Eymard B, and Gherardi RK
- Subjects
- Aged, Analysis of Variance, Atrophy genetics, Atrophy pathology, DNA Repeat Expansion genetics, Female, Humans, In Situ Hybridization methods, Male, Middle Aged, Muscle Fibers, Fast-Twitch metabolism, Myosin Heavy Chains metabolism, Reproducibility of Results, Retrospective Studies, Cell Nucleus pathology, Muscle Fibers, Fast-Twitch pathology, Myotonic Disorders diagnosis, Myotonic Disorders genetics, RNA-Binding Proteins genetics
- Abstract
The diagnosis of Type 2 myotonic dystrophy (DM2/proximal myotonic myopathy) is often overlooked because of a nonspecific clinical presentation and muscle biopsy findings of a "denervation-like" pattern of unknown specificity that combines increased fiber size variation, central nucleation, small angulated fibers, Type 2 fiber atrophy, and nuclear clumps. We determined the presence of these features in 104 patients designated as having an unidentified myopathy from a series of 2,100 muscle biopsies. Because CCUG expansions form pathogenic ribonuclear accumulations that can be detected by in situ hybridization, we validated and then used automated (CCUG)8 in situ hybridization as a reference standard to evaluate the value of each histologic feature for DM2 detection, identifying 8 DM2-positive and 96 DM2-negative cases. Multivariate analyses identified the combination of Type 2 fiber atrophy and central nucleation as the most predictive of DM2 (sensitivity, 1.0; specificity, 0.92). These features were mutually exclusive in non-DM2 patients (p < 0.0001). The relevance of this combination of features was confirmed in an additional independent series (15 DM2-positive vs 17 DM2-negative). Further investigation revealed that central nucleation selectively affects Type 2 fibers in DM2 and, conversely, that it affects Type 1 fibers in DM1 (p < 0.0001). These results will facilitate the routine detection of DM2 and further support the concept that DM2 has a distinct pathophysiology involving type 2 myofibers.
- Published
- 2008
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27. Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy.
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Bannwarth S, Procaccio V, Rouzier C, Fragaki K, Poole J, Chabrol B, Desnuelle C, Pouget J, Azulay JP, Attarian S, Pellissier JF, Gargus JJ, Abdenur JE, Mozaffar T, Calvas P, Labauge P, Pages M, Wallace DC, Lambert JC, and Paquis-Flucklinger V
- Subjects
- Adolescent, Adult, Child, Preschool, Female, Humans, Infant, Male, Middle Aged, Mitochondrial Diseases genetics, Pedigree, DNA, Mitochondrial genetics, Endonucleases, Genetic Testing methods, Neuromuscular Diseases genetics
- Abstract
Mutations of mitochondrial genome are responsible for respiratory chain defects in numerous patients. We have used a strategy, based on the use of a mismatch-specific DNA endonuclease named " Surveyor Nuclease", for screening the entire mtDNA in a group of 50 patients with neuromuscular features, suggesting a respiratory chain dysfunction. We identified mtDNA mutations in 20% of patients (10/50). Among the identified mutations, four are not found in any mitochondrial database and have not been reported previously. We also confirm that mtDNA polymorphisms are frequently found in a heteroplasmic state (15 different polymorphisms were identified among which five were novel).
- Published
- 2008
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28. Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations. Absence of genotype-phenotype correlation.
- Author
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Aquaron R, Bergé-Lefranc JL, Pellissier JF, Montfort MF, Mayan M, Figarella-Branger D, Coquet M, Serratrice G, and Pouget J
- Subjects
- Adolescent, Adult, Aged, DNA Mutational Analysis methods, Female, France epidemiology, Genotype, Glycogen Storage Disease Type V epidemiology, Humans, Male, Middle Aged, Pedigree, Phenotype, Retrospective Studies, Genetic Heterogeneity, Glycogen Phosphorylase, Muscle Form genetics, Glycogen Storage Disease Type V genetics, Mutation
- Abstract
We report on 31 patients and 3 affected siblings (17 males and 17 females) from Southern France with McArdle disease (two from Spanish and three from Portuguese background). Molecular analysis revealed the presence of five previously described mutations: the common p.R50X nonsense mutation, the p.R94W and p.V456M missense mutations, the p.K609K conservative mutation which generates an aberrant splicing, and the p.K754fs frameshift mutation; and 10 new molecular defects: eight missense mutations at homozygous (p.G136D) or heterozygous state (p.T379M, p.G449R, p.T488I, p.R490Q, p.R570Q, p.R590H, and p.R715W), one nonsense mutation p.R650X and one deletion (p.delK170). Our results confirm that the p.R50X nonsense mutation is also the most common associated with myophosphorylase deficiency in the Southern French population: 21 of 25 French unrelated patients (15 homozygous and six heterozygous, i.e., 72% of the mutated alleles). Two patients, one from Algeria and one from Tunisia, were homozygous for a previously identified missense mutation p.V456M in a Moroccan subject. Our findings further demonstrate molecular heterogeneity of myophosphorylase deficiency, absence of genotype-phenotype correlation and expand the already crowded map of mutations within the myophosphorylase gene. Our study also provides evidence for increased medical interest of malignant hyperthermia susceptibility (MHS) because of 34 McArdle disease patients, three and two affected siblings were contracture-tested and found to be positive.
- Published
- 2007
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29. Metabosensitive afferent fiber responses after peripheral nerve injury and transplantation of an acellular muscle graft in association with schwann cells.
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Alluin O, Feron F, Desouches C, Dousset E, Pellissier JF, Magalon G, and Decherchi P
- Subjects
- Animals, Female, Male, Nerve Regeneration physiology, Neural Conduction physiology, Peroneal Nerve physiopathology, Physical Stimulation, Rats, Rats, Inbred Lew, Afferent Pathways physiopathology, Muscle, Skeletal transplantation, Peroneal Nerve injuries, Peroneal Nerve surgery, Recovery of Function physiology, Schwann Cells transplantation
- Abstract
Studies dedicated to the repair of peripheral nerve focused almost exclusively on motor or mechanosensitive fiber regeneration. Poor attention has been paid to the metabosensitive fibers from group III and IV (also called ergoreceptor). Previously, we demonstrated that the metabosensitive response from the tibialis anterior muscle was partially restored when the transected nerve was immediately sutured. In the present study, we assessed motor and metabosensitive responses of the regenerated axons in a rat model in which 1 cm segment of the peroneal nerve was removed and immediately replaced by an autologous nerve graft or an acellular muscle graft. Four groups of animals were included: control animals (C, no graft), transected animals grafted with either an autologous nerve graft (Gold Standard-GS) or an acellular muscle filled with Schwann Cells (MSC) or Culture Medium (MCM). We observed that (1) the tibialis anterior muscle was atrophied in GS, M(SC) and M(CM) groups, with no significant difference between grafted groups; (2) the contractile properties of the reinnervated muscles after nerve stimulation were similar in all groups; (3) the metabosensitive afferent responses to electrically induced fatigue was smaller in M(SC) and MCM groups; and (4) the metabosensitive afferent responses to two chemical agents (KCl and lactic acid) was decreased in GS, M(SC) and M(CM) groups. Altogether, these data indicate a motor axonal regeneration and an immature metabosensitive afferent fiber regrowth through acellular muscle grafts. Similarities between the two groups grafted with acellular muscles suggest that, in our conditions, implanted Schwann cells do not improve nerve regeneration. Future studies could include engineered conduits that mimic as closely as possible the internal organization of uninjured nerve.
- Published
- 2006
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30. Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques.
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Dumanchin C, Tournier I, Martin C, Didic M, Belliard S, Carlander B, Rouhart F, Duyckaerts C, Pellissier JF, Latouche JB, Hannequin D, Frebourg T, Tosi M, and Campion D
- Subjects
- Alzheimer Disease metabolism, Alzheimer Disease pathology, Amyloid beta-Peptides genetics, Amyloid beta-Peptides metabolism, Blotting, Western, Cell Line, DNA Mutational Analysis, Humans, Membrane Proteins metabolism, Presenilin-1, RNA Splicing genetics, Reverse Transcriptase Polymerase Chain Reaction, Alzheimer Disease genetics, Membrane Proteins genetics, Mutation genetics, Paraparesis, Spastic pathology, Plaque, Amyloid pathology
- Abstract
We describe the biological consequences on PSEN1 exons 8 or 9 splicing and Abeta peptides production of four PSEN1 mutations associated with a phenotypic variant of Alzheimer disease, which includes cotton wool plaques and spastic paraparesis (CWP/SP). Two of these mutations (c.869-22_869-23ins18 and c.871A > C, p.T291P) are novel mutations located in intron 8 and exon 9, respectively. The c.869-22_869-23ins18 mutation caused exon 9 skipping whereas the c.871A > C (p.T291P) mutation showed only a modest effect on exon 9 skipping. The previously reported E280G and P264L mutations, located in exon 8, had no effect on mRNA splicing. Infection of cells with mutant T291P, E280G, or P264L cDNAs caused a variable increase in secreted Abeta42. We conclude that none of the previously proposed mechanisms, i.e. exceptionally large increases in secreted Abeta42 levels or loss of PSEN1 exons 8 or 9, provides complete explanation of the CWP/SP phenotype.
- Published
- 2006
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31. In vivo and in vitro characterization of skeletal muscle metabolism in patients with statin-induced adverse effects.
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Guis S, Figarella-Branger D, Mattei JP, Nicoli F, Le Fur Y, Kozak-Ribbens G, Pellissier JF, Cozzone PJ, Amabile N, and Bendahan D
- Subjects
- Aged, Biopsy, Calcium metabolism, Female, Humans, Hypercholesterolemia drug therapy, Magnetic Resonance Spectroscopy, Male, Middle Aged, Muscle Contraction drug effects, Muscle, Skeletal drug effects, Muscle, Skeletal pathology, Muscular Diseases chemically induced, Muscular Diseases pathology, Pain, Creatine Kinase blood, Hydroxymethylglutaryl-CoA Reductase Inhibitors adverse effects, Muscle, Skeletal metabolism
- Abstract
Objective: Statins (3-hydroxymethylglutaryl-coenzyme A reductase inhibitor) are widely used to treat hypercholesterolemia. They are generally well tolerated, but myotoxic effects have been reported and the corresponding mechanisms are still a matter of debate. The aim of the present study was to determine whether impairment of calcium homeostasis and/or mitochondrial impairment could account for the adverse effects of statins in skeletal muscle., Methods: Eleven patients with increased creatine kinase levels and myalgias after statin treatment were evaluated using in vitro contracture tests (IVCTs), histology, and 31P magnetic resonance spectroscopy (31P-MRS)., Results: IVCT results were abnormal in 7 of the 9 patients, indicating an impaired calcium homeostasis. The 31P-MRS investigation disclosed no anomaly at rest, and the aerobic function assessed during the postexercise recovery period was normal. On the contrary, the pH recovery kinetics was significantly slowed down as indicated by a reduced proton efflux, which could be ultimately linked to a failure of calcium homeostasis. Overall, our observations indicate a normal mitochondrial function and raise the possibility that statins may unmask a latent pathology involving an impairment of calcium homeostasis such as malignant hyperthermia (MH)., Conclusion: In case of susceptibility to MH, statins treatment must be administered with caution, and signs of adverse effects should be checked.
- Published
- 2006
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32. Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
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Naïmi M, Bannwarth S, Procaccio V, Pouget J, Desnuelle C, Pellissier JF, Rötig A, Munnich A, Calvas P, Richelme C, Jonveaux P, Castelnovo G, Simon M, Clanet M, Wallace D, and Paquis-Flucklinger V
- Subjects
- Adolescent, Adult, Base Sequence, Child, Preschool, DNA Polymerase gamma, Female, Genetic Testing, Humans, Infant, Male, Middle Aged, Mitochondrial Proteins, Molecular Sequence Data, Pedigree, Polymorphism, Genetic, Sequence Deletion, Adenine Nucleotide Translocator 1 genetics, Chromatography, High Pressure Liquid methods, DNA Helicases genetics, DNA, Mitochondrial, DNA-Directed DNA Polymerase genetics
- Abstract
ANT1, TWINKLE and POLG genes affect mtDNA stability and are involved in autosomal dominant PEO, while mutations in POLG are responsible for numerous clinical presentations, including autosomal recessive PEO, sensory ataxic neuropathy, dysarthria and ophthalmoparesis (SANDO), spino-cerebellar ataxia and epilepsy (SCAE) or Alpers syndrome. In this study, we report on the mutational analysis of ANT1, TWINKLE and POLG genes in 15 unrelated patients, using a dHPLC-based protocol. This series of patients illustrates the large array of clinical presentations associated with mtDNA stability defects, ranging from isolated benign PEO to fatal Alpers syndrome. A total of seven different mutations were identified in six of 15 patients (40%). Six different recessive mutations were found in POLG, one in TWINKLE while no mutation was identified in ANT1. Among the POLG mutations, three are novel and include two missense and one frameshift changes. Seventeen neutral changes and polymorphisms were also identified, including four novel neutral polymorphisms. Overall, this study illustrates the variability of phenotypes associated with mtDNA stability defects, increases the mutational spectrum of POLG variants and provides an efficient and reliable detection protocol for ANT1, TWINKLE and POLG mutational screening.
- Published
- 2006
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33. Platelet-endothelial cell adhesion molecule-1 and CD146: soluble levels and in situ expression of cellular adhesion molecules implicated in the cohesion of endothelial cells in idiopathic inflammatory myopathies.
- Author
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Figarella-Branger D, Schleinitz N, Boutière-Albanèse B, Camoin L, Bardin N, Guis S, Pouget J, Cognet C, Pellissier JF, and Dignat-George F
- Subjects
- Cell Adhesion physiology, Dermatomyositis blood, Dermatomyositis pathology, Dermatomyositis physiopathology, E-Selectin blood, Endothelial Cells pathology, Endothelial Cells physiology, Humans, Intercellular Adhesion Molecule-1 blood, Muscle, Skeletal metabolism, Muscle, Skeletal pathology, Myositis pathology, Myositis physiopathology, Myositis, Inclusion Body blood, Myositis, Inclusion Body pathology, Myositis, Inclusion Body physiopathology, P-Selectin blood, Polymyositis blood, Polymyositis pathology, Polymyositis physiopathology, Vascular Cell Adhesion Molecule-1 blood, CD146 Antigen blood, Cell Adhesion Molecules blood, Endothelial Cells metabolism, Myositis blood, Platelet Endothelial Cell Adhesion Molecule-1 blood
- Abstract
Objective: Idiopathic inflammatory myopathies (IIM) are a heterogeneous group of diseases characterized by chronic inflammation of muscles. We investigated the role of cellular adhesion molecules implicated in the cohesion of endothelial cells in IIM., Methods: In 22 patients with IIM we investigated plasma concentrations of soluble junctional adhesion molecules [platelet-endothelial cell adhesion molecule (sPECAM-1) and sCD146] and cellular adhesion molecules [sP-selectin, sE-selectin, intercellular adhesion molecule (sICAM-1), and vascular cell adhesion molecule (sVCAM-1)] implicated in leukocyte/endothelial cell interactions. Results were compared to a control group. Muscle biopsy samples from 8 out of 22 IIM patients were studied by immunohistochemistry for tissue expression of these molecules and compared to normal muscle samples. PECAM-1 and CD146 expression was also studied using immunoblots from muscle biopsies from 5 patients and 2 controls., Results: We observed distinct patterns of soluble levels and in situ expression between dermatomyositis (DM), polymyositis (PM), and sporadic inclusion body myositis (s-IBM). PM samples showed significantly increased levels of sCD146, sPECAM-1, and s-ICAM1 and increased expression of CD146, CD31, and ICAM-1 in endothelial cells, whereas CD146 and ICAM-1 were also recorded in some muscle fibers. In DM, sE-selectin, sP-selectin, and sPECAM-1 were significantly increased, with abnormal expression of ICAM-1 in endothelial cells and perifascicular muscle fibers. In the small group of s-IBM samples, results were similar to PM, but the only significant increase was the level of sPECAM-1. Immunoblots confirmed increased expression of PECAM-1 and CD146 in all IIM muscles in comparison to controls, with the highest expression in PM and IBM samples., Conclusion: We observed abnormal increases of soluble levels of adhesion molecules implicated in endothelial cell junctions in PM (sCD146, sPECAM-1) and to a lesser extent in DM and s-IBM (sPECAM-1). We conclude that the distinctly different profiles between PM/s-IBM and DM reflect differences in the pathophysiological background of these diseases.
- Published
- 2006
34. Progressive multifocal leukoencephalopathy in HIV-2-infected patient.
- Author
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Bienaime A, Colson P, Moreau J, Zandotti C, Pellissier JF, and Brouqui P
- Subjects
- Fatal Outcome, Guinea-Bissau, Humans, Male, Middle Aged, HIV Infections complications, HIV-2, JC Virus, Leukoencephalopathy, Progressive Multifocal complications
- Published
- 2006
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35. 'Cap myopathy': case report of a family.
- Author
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Cuisset JM, Maurage CA, Pellissier JF, Barois A, Urtizberea JA, Laing N, Tajsharghi H, and Vallée L
- Subjects
- Actins genetics, Adolescent, Adult, Biopsy, Child, Preschool, Female, Humans, Male, Muscles pathology, Muscular Diseases diagnosis, Mutation, Myosin Heavy Chains genetics, Pedigree, Muscular Diseases congenital, Muscular Diseases genetics, Myopathies, Nemaline diagnosis, Myopathies, Nemaline genetics
- Abstract
We report the observation of an 18-year-old girl, whose clinical presentation was very suggestive of a congenital myopathy with neonatal onset. A congenital myopathy had been already diagnosed in her brother and in addition her half-cousin died diagnosed with a severe nemaline myopathy at age 4 years. A muscle biopsy performed on both siblings revealed histological and ultrastructural features of 'cap myopathy'. This case report suggests that 'cap myopathy' and some cases of nemaline myopathy with neonatal onset might be two phenotypic expressions of the same genetic disorder. These two entities could therefore, perhaps, be regarded as 'Z-line disorders' possibly caused by defective myofibrillogenesis.
- Published
- 2006
- Full Text
- View/download PDF
36. Electron microscopy in neuromuscular disorders.
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Fernandez C, Figarella-Branger D, Meyronet D, Cassote E, Tong S, and Pellissier JF
- Subjects
- Humans, Inclusion Bodies ultrastructure, Microscopy, Electron, Transmission, Muscles ultrastructure, Neuromuscular Diseases pathology
- Abstract
Electron microscopy has a strategic position in the diagnosis of neuromuscular disorders. In muscular fibers, the main abnormalities include vacuoles, inclusion bodies, and myofibrillar disorganization with or without abnormal inclusion material. Vacuolar changes include lipidic and glycogenic storage vacuoles, rimmed vacuoles, and lysosomal and autophagic vacuoles. Accumulation of abnormal inclusion material is found in nemaline myopathy, actinopathies, and hyaline body myopathy. Myofibrillar disorganization involves cores, multiminicores, and myosin chain depletion. Myofibrillar myopathies associate a pathologic pattern of myofibrillar dissolution and ectopic protein expression. They can be divided into two groups: myofibrillar myopathies with multiple expression proteins and myofibrillar myopathies with desmin and alphaB-crystallin expression only. In these two conditions, electron microscopy shows accumulation of a granulofilamentous material immunoreactive for desmin. At least three genes are implicated: desmin, alphaB-crystallin, and myotilin. Lastly, electron microscopy serves to identify changes, pathogenic or not, which are not shown up by light microscopy. Moreover, electron microscopy gives insight on pathophysiological mechanisms and can guide molecular genetics analysis.
- Published
- 2005
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37. Expression of the beta chemokines CCL3, CCL4, CCL5 and their receptors in idiopathic inflammatory myopathies.
- Author
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Civatte M, Bartoli C, Schleinitz N, Chetaille B, Pellissier JF, and Figarella-Branger D
- Subjects
- Adolescent, Adult, Aged, Female, Humans, Immunohistochemistry, Male, Middle Aged, Muscle, Skeletal pathology, Myositis pathology, Reverse Transcriptase Polymerase Chain Reaction, Chemokines, CC biosynthesis, Muscle, Skeletal metabolism, Myositis metabolism, Receptors, Chemokine biosynthesis
- Abstract
The idiopathic inflammatory myopathies (IIM) are a group of autoimmune diseases characterized by chronic lymphocytic and macrophagic infiltration in muscle. Because the mechanism for recruitment of these cells probably involves chemokines, we focused on the study of the expression pattern of some beta chemokines and receptors because it may provide a basis for selective immunotherapy. The expression of CCL3 (MIP-1alpha), CCL4 (MIP-1beta), CCL5 (RANTES) and their main receptors (CCR1 and CCR5) was studied by semi-quantitative reverse transcriptase polymerase chain reaction (RT-PCR) and immunohistochemistry in a series of 16 IIM and five controls (four normal muscles and one tonsil). Except for CCL5, strong expression was observed by RT-PCR with all molecules in all IIM subtypes in comparison to control muscle. Immunohistochemistry revealed diffuse CCL4 expression in all vessels in dermatomyositis. In both polymyositis and sporadic inclusion body myositis (s-IBM) it was restricted to vessels in the vicinity of inflammatory exudates. CCL5 expression was low, restricted to a few inflammatory cells in all IIM; CCR1 expression was mainly restricted to macrophages and s-IBM endothelial cells, whereas CCR5 was localized in inflammatory cells invading non-necrotic muscle fibres. Expressions of both receptors were also recorded in few muscle fibres. In conclusion, the upregulation of beta chemokines and receptors in IIM and their differential expression by various cells may contribute to chronic inflammation and to the peculiar distribution of inflammatory exudates in these diseases.
- Published
- 2005
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38. Lewis-Sumner syndrome and multifocal motor neuropathy.
- Author
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Verschueren A, Azulay JP, Attarian S, Boucraut J, Pellissier JF, and Pouget J
- Subjects
- Action Potentials, Adult, Biopsy, Cerebrospinal Fluid Proteins metabolism, Demyelinating Diseases drug therapy, Diagnosis, Differential, Female, Humans, Immunosuppressive Agents administration & dosage, Male, Middle Aged, Motor Neuron Disease drug therapy, Motor Neurons pathology, Neurons, Afferent pathology, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating drug therapy, Retrospective Studies, Steroids administration & dosage, Demyelinating Diseases pathology, Demyelinating Diseases physiopathology, Motor Neuron Disease pathology, Motor Neuron Disease physiopathology, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating pathology, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating physiopathology
- Abstract
We compared the clinical, electrophysiological, laboratory, and pathological features of 13 patients with Lewis-Sumner syndrome (LSS) with those of 20 patients with multifocal motor neuropathy (MMN). LSS and MMN patients have several common clinical features: age at onset, weakness in the distribution of individual peripheral nerves, mild wasting, cramps and fasciculations, partial areflexia, and frequent stepwise disease course. Cerebrospinal fluid protein level was normal or slightly elevated, but always less than 100 mg/dl. Conduction blocks are the electrophysiological hallmarks of these two neuropathies, and no differences in distribution and number of blocks were found. Contrary to MMN, lower-limb involvement at onset was frequent in LSS but extension to the upper limbs was a frequent later feature of the disease. Cranial nerve involvement was noted in 4 LSS patients during relapses and absent in all MMN patients. The major distinguishing features were the clinical and electrophysiological sensory involvement in LSS, and the lack of anti-GM1 antibodies in LSS, whereas IgM anti-GM1 were found in 40% of MMN patients. Some LSS patients responded to steroid therapy, whereas this was ineffective in MMN. From these features, LSS can be considered an entity distinct from MMN, with its own clinical, laboratory, and electrophysiological characteristics, and as an intermediate link between chronic inflammatory demyelinating polyneuropathy and MMN.
- Published
- 2005
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39. Tau aggregates are abnormally phosphorylated in inclusion body myositis and have an immunoelectrophoretic profile distinct from other tauopathies.
- Author
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Maurage CA, Bussière T, Sergeant N, Ghesteem A, Figarella-Branger D, Ruchoux MM, Pellissier JF, and Delacourte A
- Subjects
- Adult, Aged, Aged, 80 and over, Antibodies, Monoclonal, Blotting, Western, Child, Preschool, Female, Humans, Immunoblotting, Immunoelectrophoresis, Immunohistochemistry, Infant, Male, Middle Aged, Muscle, Skeletal metabolism, Muscle, Skeletal pathology, Myositis, Inclusion Body pathology, Phosphorylation, Vacuoles metabolism, Vacuoles pathology, Myositis, Inclusion Body metabolism, tau Proteins metabolism
- Abstract
Sporadic inclusion body myositis (s-IBM) is the most frequent progressive acquired inflammatory myopathy in people older than 50 years. Abnormal aggregates of 'Alzheimer's proteins', including tau proteins, have been previously demonstrated in s-IBM. In the present study, we have investigated by immunohistochemistry and immunoblotting analysis the presence of tau proteins in muscle biopsy samples from patients with s-IBM and other myopathies with rimmed vacuoles, using newly developed antibodies raised against tau protein epitopes found in Alzheimer's disease brain. Tau immunoreactivity was shown in rimmed vacuoles or inclusions, preferentially with antibodies directed against phosphorylated carboxy-terminal epitopes of tau proteins. Cytoplasmic reactivity was also demonstrated in atrophic, nonvacuolated fibres, as well as in non-necrotic fibres invaded by inflammatory cells. Abnormally phosphorylated tau aggregates were also found in other compartments of the muscle fibre in s-IBM and other myopathies. Tau immunoblotting showed an electrophorectic profile of a doublet within the range of 60-62 kDa isovariants, which was different from tauopathies of the central nervous system. Finally, the unique pattern of immunoreactivity of s-IBM samples towards anti-tau antibodies is a new clue to a possible distinct subclass of peripheral tauopathy, different from the tauopathies of the central nervous system.
- Published
- 2004
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40. Combination of histopathological and electromyographic patterns can help to evaluate functional outcome of critical ill patients with neuromuscular weakness syndromes.
- Author
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Kerbaul F, Brousse M, Collart F, Pellissier JF, Planche D, Fernandez C, Gouin F, and Guidon C
- Subjects
- Adult, Female, Humans, Intensive Care Units, Male, Middle Aged, Muscular Atrophy diagnosis, Muscular Atrophy etiology, Muscular Atrophy physiopathology, Neuromuscular Diseases physiopathology, Paresis diagnosis, Paresis etiology, Paresis physiopathology, Prognosis, Prospective Studies, Recovery of Function, Syndrome, Treatment Failure, Cardiovascular Surgical Procedures rehabilitation, Critical Illness, Electromyography, Neuromuscular Diseases diagnosis, Ventilator Weaning
- Abstract
Introduction: The aim of the study was to describe patterns of neuromuscular weakness using a combination of electromyography and histology, and to evaluate functional outcome in patients following complicated cardiovascular surgery., Methods: Fifteen adults requiring long-term mechanical ventilation (>15 days) following cardiovascular surgery associated with postoperative complications were prospectively included. Electrophysiological and histological analyses (muscle and nerve) were performed when failure to wean from mechanical ventilation associated with peripheral neuromuscular weakness was noticed. Functional disability was evaluated 12 months after surgery., Results: Six patients had a predominantly axonal neuropathy, six presented with myopathy, and three patients had a combination of axonal neuropathy and myopathy. All of them presented with acute tetraparesis and failure to wean from mechanical ventilation. All of the study patients who received corticosteroids exhibited a myopathic pattern (with or without axonopathic changes) but never an axonopathic pattern only. Only two of the eight survivors at 12 months were not ambulatory. These two patients had no detectable compound muscle action potential on electrophysiological examination., Conclusion: The combination of electromyographic evaluation and neuromuscular histological abnormalities could help to identify the type and severity of neuromuscular weakness, in turn helping to evaluate the patient's potential functional prognosis.
- Published
- 2004
- Full Text
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41. Pellagra: a rare disease observed in a victim of mental and physical abuse.
- Author
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Piercecchi-Marti MD, Pélissier-Alicot AL, Leonetti G, Tervé JP, Cianfarani F, and Pellissier JF
- Subjects
- Adult, Autopsy, Cachexia complications, Cachexia pathology, Diagnosis, Differential, Domestic Violence, Female, Hematoma complications, Hematoma pathology, Humans, Intellectual Disability, Pellagra complications, Pellagra pathology, Pellagra diagnosis
- Abstract
Lesions of the brain stem and cerebellum due to nutritional deficiencies are mostly seen in chronic alcohol abuse and more rarely in severe malnutrition. We report the case of a 27-year-old woman, found dead in the family flat. She presented cachexia (167 cm, 25 kg) and multiple hematomas of the limbs. Postmortem examination revealed lesions due to peritonitis. Neuropathological examination showed severe atrophy of the corpus callosum and central neuronal chromatolysis, which are observed in pellagra. Inflammatory colitis or celiac disease was not found. Toxicological analysis was negative, in particular no alcohol absorption. Pellagra, which is due to nicotinamide deficiency, is a disease rarely seen in this country. In this case, nutritional deficiency was the consequence of failure to eat in a context of abuse. The woman was born of an incestuous relationship and presented intellectual retardation due to poor affective relations with her mother.
- Published
- 2004
- Full Text
- View/download PDF
42. MRI and 31PMR spectroscopy investigations of muscle function disclose no abnormality in macrophagic myofasciitis.
- Author
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Guis S, Mattei JP, Pellissier JF, Nicoli F, Figarella-Branger D, Le Fur Y, Kaplanski G, Pelletier J, Harle JR, Cozzone PJ, and Bendahan D
- Subjects
- Adult, Fasciitis metabolism, Female, Humans, Macrophages metabolism, Male, Muscle, Skeletal metabolism, Myositis metabolism, Fasciitis pathology, Macrophages pathology, Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, Muscle, Skeletal pathology, Myositis pathology, Phosphorus Isotopes
- Published
- 2004
43. Value of fetal autopsy after medical termination of pregnancy.
- Author
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Piercecchi-Marti MD, Liprandi A, Sigaudy S, Fredouille C, Adalian P, Figarella-Branger D, and Pellissier JF
- Subjects
- Adolescent, Adult, Autopsy, Chromosome Aberrations, Congenital Abnormalities diagnostic imaging, Congenital Abnormalities genetics, Female, France, Genetic Predisposition to Disease, Humans, Middle Aged, Pregnancy, Pregnancy Complications, Retrospective Studies, Ultrasonography, Prenatal, Aborted Fetus pathology, Abortion, Induced
- Abstract
We carried out a retrospective study of 352 medical terminations of pregnancy (MTP) carried out in a large French administrative region over two consecutive years. We analysed the indications for MTP and then compared the prenatal ultrasound diagnosis with fetal autopsy findings in order to demonstrate the value of pathological examination of the fetus in prenatal diagnosis and genetic counselling as well as the need to check by autopsy the quality of ultrasound screening. Preliminary analysis of the indication for these MTP showed that in 69.9% ultrasound screening had been carried out, revealing mainly brain abnormalities (22.2%) and heart defects generally associated with chromosomal abnormalities (32.1%). Prenatal findings were in agreement with autopsy results, showing no false-positive prenatal diagnoses. However, in 7.9% of cases in which brain abnormalities were detected, confirmation was not possible at autopsy because of tissue autolysis, showing the need for optimal conditions of expulsion. In 35.8% of cases, confirmation of the diagnosis by autopsy was not useful for management but still added to medical knowledge and demonstrated to the mother the reality of the defects. In 50.9%, the autopsy findings were decisive for genetic counselling.
- Published
- 2004
- Full Text
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44. Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease.
- Author
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Passage E, Norreel JC, Noack-Fraissignes P, Sanguedolce V, Pizant J, Thirion X, Robaglia-Schlupp A, Pellissier JF, and Fontés M
- Subjects
- Animals, Ascorbic Acid pharmacology, Base Sequence, Charcot-Marie-Tooth Disease genetics, Charcot-Marie-Tooth Disease physiopathology, DNA Primers, Female, Gene Expression Regulation drug effects, Male, Mice, Myelin Proteins genetics, Phenotype, Sciatic Nerve drug effects, Sciatic Nerve physiopathology, Ascorbic Acid therapeutic use, Charcot-Marie-Tooth Disease drug therapy
- Abstract
Charcot-Marie-Tooth disease (CMT) is the most common hereditary peripheral neuropathy, affecting 1 in 2,500 people. The only treatment currently available is rehabilitation or corrective surgery. The most frequent form of the disease, CMT-1A, involves abnormal myelination of the peripheral nerves. Here we used a mouse model of CMT-1A to test the ability of ascorbic acid, a known promoter of myelination, to correct the CMT-1A phenotype. Ascorbic acid treatment resulted in substantial amelioration of the CMT-1A phenotype, and reduced the expression of PMP22 to a level below what is necessary to induce the disease phenotype. As ascorbic acid has already been approved by the FDA for other clinical indications, it offers an immediate therapeutic possibility for patients with the disease.
- Published
- 2004
- Full Text
- View/download PDF
45. Focal myositis associated with S-1 radiculopathy: report of two cases.
- Author
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Streichenberger N, Meyronet D, Fiere V, Pellissier JF, and Petiot P
- Subjects
- Adult, Female, Humans, Hypertrophy physiopathology, Intervertebral Disc Displacement complications, Intervertebral Disc Displacement physiopathology, Intervertebral Disc Displacement surgery, Laminectomy, Magnetic Resonance Imaging, Male, Muscle Denervation adverse effects, Muscle, Skeletal innervation, Muscle, Skeletal physiopathology, Myositis pathology, Myositis physiopathology, Neural Conduction physiology, Radiculopathy physiopathology, Radiculopathy surgery, Sacrum, Spinal Nerves pathology, Spinal Nerves physiopathology, Spinal Nerves surgery, Tibial Nerve physiopathology, Hypertrophy etiology, Hypertrophy pathology, Muscle, Skeletal pathology, Myositis etiology, Radiculopathy complications
- Abstract
Two cases are described of pseudotumoral calf hypertrophy after laminectomy for a compressive S-1 radiculopathy. The serum creatine kinase (CK) level was normal or mildly elevated. T2-weighted magnetic resonance imaging (MRI) showed calf enlargement, with an increased signal of the medial head of the gastrocnemius muscle. Electromyography revealed fibrillation potentials and positive sharp waves, but no complex repetitive discharges in the affected gastrocnemius muscle, with motor unit potentials having mixed neurogenic and myopathic features. Muscle biopsy revealed a focal myositis associated with some features of denervation. A brief course of corticosteroids was followed by remission clinically and improvement in the MRI findings.
- Published
- 2004
- Full Text
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46. Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization.
- Author
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Guis S, Figarella-Branger D, Monnier N, Bendahan D, Kozak-Ribbens G, Mattei JP, Lunardi J, Cozzone PJ, and Pellissier JF
- Subjects
- DNA Mutational Analysis, Female, Genetic Predisposition to Disease, Humans, Male, Muscle Contraction, Mutation, Myopathies, Nemaline pathology, Myopathy, Central Core pathology, Pedigree, Ryanodine Receptor Calcium Release Channel, Malignant Hyperthermia complications, Muscle, Skeletal pathology, Myopathy, Central Core etiology
- Abstract
Background: Histological anomalies associated with malignant hyperthermia (MH) have been scarcely reported. In some patients susceptible to MH (MHS), central cores have been identified and a genetic association has been proposed, but multiminicore lesions have not been systematically reported., Objective: To analyze the association between multiminicores and MHS in a large family with MH with an approach combining histology, in vitro contracture tests, and genetic analysis., Patients and Methods: Twenty-nine members of an MH family (147 members) were investigated., Main Outcome Measures: Muscle biopsy specimens were analyzed histologically and with in vitro contracture tests. Genetic analyses were performed to determine the presence of mutations in the ryanodine receptor (RYR1) gene., Results: According to the gold standard in vitro contracture tests, 17 patients were diagnosed as having MHS and 10 as not being susceptible. Multiminicores were found in 16 of the 17 MHS patients and in a single nonsusceptible participant. A linkage between the MH trait and the RYR1 locus in chromosome 19 was demonstrated, whereas no already known mutations were found. Two missense heterozygous mutations (R2676W and T2787S) were identified from sequencing of the entire coding complementary DNA. Overall, we found a significant association between MHS and the presence of multiminicores (chi(2) = 26.5, P<.001) on the one hand and the presence of new mutations in the RYR1 gene (chi(2) = 19.0, P<.001) on the other hand. This remarkably high occurrence of multiminicores in an MHS family is uncommon, and genetic analyses indicate that the association between multiminicores and MHS is linked to a novel R2656W and T2787S substitution present on the same allele of the RYR1 gene., Conclusions: These results indicate that multiminicore lesions are observed in MHS patients with neither clinical signs related to multiminicore disease nor histological features of congenital myopathies. These multiminicore lesions may be secondary to mutations in the RYR1 gene. As a consequence, these patients must be distinguished from patients with multiminicore disease and from other MHS patients for whom multiminicores are not observed.
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- 2004
- Full Text
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47. Class I MHC detection as a diagnostic tool in noninformative muscle biopsies of patients suffering from dermatomyositis (DM).
- Author
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Civatte M, Schleinitz N, Krammer P, Fernandez C, Guis S, Veit V, Pouget J, Harlé JR, Pellissier JF, and Figarella-Branger D
- Subjects
- Adult, Aged, Biomarkers analysis, Biopsy, Dermatomyositis metabolism, Dermatomyositis physiopathology, Electromyography, Female, Humans, Immunohistochemistry, Male, Microscopy, Electron, Middle Aged, Muscle, Skeletal ultrastructure, Retrospective Studies, Dermatomyositis diagnosis, Histocompatibility Antigens Class I metabolism, Muscle, Skeletal metabolism, Muscle, Skeletal pathology
- Abstract
This study is to further confirm the diagnostic value of class I MHC detection in muscle biopsies of adult patients presenting with clinical features of dermatomyositis (DM) and to address its diagnostic value in the case of nonspecific biopsies. A retrospective study was performed on muscle biopsies in 22 patients presenting with clinical features of DM. Immunohistochemical detection of class I MHC was performed in all cases. On pathological features two groups of patients were recorded: group I (14 patients) with typical features of DM and group II (eight patients) with almost normal muscle biopsies (no inflammatory exudates, no perifascicular atrophy). Abnormal sarcolemmal class I MHC expression was recorded in all cases. In all muscle biopsies of group I patients, class I MHC expression was observed in almost all fibres but was stronger in perifascicular areas (eight patients) or was restricted to perifascicular atrophic fibres (six patients). In all muscle biopsies of group II patients, only some perifascicular fibres expressed class I MHC. According to Bohan and Peter criteria, patients were classified as definite DM (nine group I and three group II patients), probable DM (five group I and two group II patients) and possible DM (three group II patients). Abnormal perifascicular class I MHC expression is of diagnostic value in patients presenting with clinical features of DM especially when muscle biopsy fails to show typical features such as inflammatory infiltrates and/or perifascicular atrophy.
- Published
- 2003
- Full Text
- View/download PDF
48. Cytokines, chemokines, and cell adhesion molecules in inflammatory myopathies.
- Author
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Figarella-Branger D, Civatte M, Bartoli C, and Pellissier JF
- Subjects
- Humans, Immunohistochemistry, Muscle, Skeletal pathology, Myositis immunology, Cell Adhesion Molecules physiology, Chemokines physiology, Cytokines physiology, Myositis physiopathology
- Abstract
The inflammatory myopathies include dermatomyositis (DM), polymyositis (PM), and sporadic inclusion-body myositis (s-IBM). In DM, the main immune effector response appears to be humoral and directed against the microvasculature, whereas in both PM and s-IBM, cytotoxic CD8+ T cells and macrophages invade and eventually destroy nonnecrotic muscle fibers expressing major histocompatibility complex class I. The need for more specific and safer therapies in inflammatory myopathies has prompted researchers to better decipher the molecular events associated with inflammation and muscle fiber loss in these diseases. The complex specific migration of leukocyte subsets to target tissues requires a coordinated series of events, namely activation of leukocytes, adhesion to the vascular endothelium, and migration. Cell adhesion molecules (CAM) and chemokines play a major role in this multistep process. In addition, cytokines by stimulating CAM expression and orchestrating T-cell differentiation also influence the immune response. This review focuses on recent advances in defining the molecular events involved in leukocyte trafficking in inflammatory myopathies. Specific topics include a concise summary of clinical features, pathological findings and immunopathology observed in inflammatory myopathies, background information about cytokines, chemokines and cell adhesion molecules, and the expression of these molecules in inflammatory myopathies.
- Published
- 2003
- Full Text
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49. A case of late-onset CADASIL with interhemispheric disconnection features.
- Author
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Felician O, Barbeau E, Gavaret M, Pellissier JF, Tournier-Lasserve E, Poncet M, and Ceccaldi M
- Subjects
- Age of Onset, Dementia, Multi-Infarct complications, Disease Progression, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Cognition Disorders etiology, Dementia, Multi-Infarct genetics, Dementia, Multi-Infarct pathology
- Published
- 2003
- Full Text
- View/download PDF
50. Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene.
- Author
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Figarella-Branger D, Pouget J, Bernard R, Krahn M, Fernandez C, Lévy N, and Pellissier JF
- Subjects
- Aged, Amino Acid Substitution, Biopsy, Caveolin 3, Creatine Kinase blood, Creatine Kinase, MM Form, Dysferlin, Exons genetics, Female, Humans, Isoenzymes blood, Muscle Proteins deficiency, Muscle, Skeletal pathology, Muscular Dystrophies enzymology, Muscular Dystrophies pathology, Polymerase Chain Reaction, Caveolins genetics, Membrane Proteins, Muscular Dystrophies genetics, Mutation, Missense, Point Mutation
- Abstract
The authors report a 71-year-old woman with limb-girdle muscular dystrophy (LGMD) associated with an R27Q mutation in the CAV3 gene. Immunohistochemistry showed a >90% reduction of caveolin-3 on the sarcolemma by western blot, and anti-dysferlin immunoreactivity was reduced. This case emphasizes that an R27Q missense mutation in the CAV3 gene can lead to various clinical phenotypes including hyperCKemia, rippling muscle disease, distal myopathy, and LGMD1C.
- Published
- 2003
- Full Text
- View/download PDF
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