379 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.
- Published
- 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
- Subjects
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.
- Published
- 1993
4. IMMUNOHISTOCHEMICAL LOCALIZATION OF CYTOKINES, C5B‐9 AND ICAM‐1 IN PERIPHERAL NERVE OF GUILLAIN‐BARRE SYNDROME
- Author
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Putzu, Ga, primary, Figarella‐Branger, D, additional, Bouvier‐Labit, C, additional, Liprandi, A, additional, Bianco, N, additional, and Pellissier, Jf, additional
- Published
- 2000
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5. Importance of searching for associated mitochondrial DNA alterations in patients with multiple deletions
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Paul, R, primary, Desnuelle, C, additional, Pouget, J, additional, Pellissier, JF, additional, Richelme, C, additional, Monfort, MF, additional, Butori, C, additional, Saunieres, A, additional, and Paquis-Flucklinger, V, additional
- Published
- 2000
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6. Myopathie avec autophagie excessive liée à l'X: à propos de trois cas
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Chabrol, B, primary, Pellissier, JF, additional, Figarella-Branger, D, additional, and Mancini, J, additional
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- 1998
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7. Émergence d'une nouvelle maladie: la myofasciite à macrophage
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Chérin, P, primary, Ghérardi, R, additional, Eymard, B, additional, Laforêt, P, additional, Coquet, M, additional, Colin, JY, additional, Authier, FJ, additional, Bélec, L, additional, Figarella-Branger, D, additional, Mussini, JM, additional, Pellissier, JF, additional, Pennaforte, JL, additional, Séréni, D, additional, Fardeau, M, additional, and Hersort, S, additional
- Published
- 1998
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8. Sarcomes aortiques avec embolies périphériques: à propos de deux cas
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Daniel, L, primary, Figarella-Branger, D, additional, Tournigand, P, additional, Hassoun, J, additional, and Pellissier, JF, additional
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- 1997
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9. Knémite et maladie de Crohn: deux nouveaux cas
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Disdier, P, primary, Swiader, L, additional, Veit, V, additional, Pellissier, JF, additional, Arlet, P, additional, Harlé, JR, additional, and Weiller, PJ, additional
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- 1995
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10. Correlation of clinicoserologic and pathologic classifications of inflammatory myopathies: study of 178 cases and guidelines for diagnosis.
- Author
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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
- Published
- 2013
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11. Block of neural Kv1.1 potassium channels for neuroinflammatory disease therapy.
- Author
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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
12. Aspects electromyographiques des myosites a inclusions. Etude en macroelectromyographie
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Jean Pouget, Pellissier Jf, and Georges Serratrice
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medicine.diagnostic_test ,Physiology ,business.industry ,Anatomy ,Electromyography ,Fibrillation potentials ,medicine.disease ,Polymyositis ,Motor unit ,Electrophysiology ,Biopsy ,medicine ,Neurology (clinical) ,Inclusion body myositis ,business ,Cartography ,Myositis - Abstract
Histological and electrophysiological features in cases of inclusion body myositis are often difficult to interpret, suggesting either a "myogenic" or a "neurogenic" disorder. One case of inclusion body myositis is described. Conventional needle electromyography recording was interpreted as "neurogenic": abundant fibrillation potentials and positive sharp waves, reduced interference pattern, polyphasic-high amplitude-long duration motor unit potentials. Macro-EMG was performed in quadriceps muscle. Fibre density was normal and median value of the amplitude of macro motor unit potentials was increased, suggesting a larger size of motor units. Morphologic and electrophysiologic features indicate compensatory and regeneration mechanisms resulting in an increase of motor unit during the course of inclusion body myositis. This can explain atypical electromyographic and morphologic data in this disease.
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- 1987
13. Neuropathologie Des Encéphalopathies Par Erreurs Innées Du Métabolisme Des Lipides, Des Glucides Et Des Acides Aminés
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D. Gambarelli, Tripier Mf, M. Berard-Badier, Maurice Toga, Pellissier Jf, and Jacques Hassoun
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Storage material ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.anatomical_structure ,Biochemistry ,Non specific ,Physiology ,Chemistry ,Central nervous system ,medicine ,Neurology (clinical) ,Glycogenosis Type II ,medicine.disease ,Lafora disease - Abstract
Summary Morphological features of the central nervous system, by light and electron microscopy, are reported in various encephalopathies by inborn enzymatic defect in lipid, glucidic and aminoacid metabolisms. The authors stress on the caracteristics of the abnormal storage material in Neurolipidoses, Ceroid-Lipofuscinoses, Glycogenosis type II and Lafora disease. On the other hand, they insist on the non specific lesions of the central nervous system in Aminoacidopathies by enzymatic defect.
- Published
- 1978
14. Areflexie tendineuse au cours des myopathies congenitales comportant une atrophie des fibres de type I. Etude electrophysiologique
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Gastaut Jl, Jean Pouget, Pellissier Jf, Georges Serratrice, and Cros D
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Physiology ,business.industry ,Motor nerve ,Anatomy ,Deep Tendon Reflex ,medicine.disease ,Congenital myopathy ,Tendon reflex ,Ankle jerk reflex ,medicine.anatomical_structure ,medicine ,Neurology (clinical) ,H-reflex ,Centronuclear myopathy ,medicine.symptom ,Myopathy ,business - Abstract
Summary A predominance and/or an atrophy of type I fibers and a loss of deep tendon reflexes are often observed in different types of congenital myopathy. Various data indicate that both findings can be linked: dysfunction of the myotatic reflex can induce predominant involvement of type I fibers. In order to specify the mechanism of the loss of tendon reflex, an investigation of the Hoffmann reflex (H reflex) was performed in one case of centronuclear myopathy and in one case of congenital type fiber disproportion with type I hypertrophy. The Achilles tendon reflex was absent but the H reflex showed normal recruitment amplitude and latency. The Jendrassik maneuver reinforced the H reflex. These results indicate the involvement of muscle spindles or impairment of the fusimotor system. Nuclear bag intrafusal fibers have common characteristics with type I extrafusal fibers. Both types of fibers could be involved simultaneously in congenital myopathles, thus explaining the loss of tendon reflex.
- Published
- 1984
15. 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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16. 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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17. 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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18. HLA DRB101 and macrophagic myofasciitis
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Guis, S, Pellissier, JF, Nicoli, F, Reviron, D, Mattei, JP, Gherardi, RK, Pelletier, J, Kaplanski, G, Figarella-Branger, D, and Roudier, J
- Published
- 2003
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19. VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.
- Author
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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
- Subjects
- 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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20. 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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21. 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
- Subjects
- 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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22. 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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23. 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
- Subjects
- 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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24. 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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25. Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity.
- Author
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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
- Subjects
- 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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26. The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.
- Author
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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
- Subjects
- 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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27. Lethal injection of potassium chloride: first description of the pathological appearance of organs.
- Author
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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.)
- Published
- 2010
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28. Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations.
- Author
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Fernandez C, Halbert C, De Paula AM, Lacroze V, Froissart R, Figarella-Branger D, Chabrol B, and Pellissier JF
- Subjects
- 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.
- Published
- 2010
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29. [Potassium channelopathies and Morvan's syndromes].
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Serratrice G, Pellissier JF, Serra-Trice J, and Weiller PJ
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- Developmental Disabilities genetics, Diabetes Mellitus genetics, Epilepsy genetics, Humans, Mutation, Syndrome, Potassium Channels genetics, Syringomyelia genetics
- Abstract
Interest in Morvan's disease or syndrome has grown, owing to its close links with various potassium channelopathies. Potassium is crucial for gating mechanisms (channel opening and closing), and especially for repolarization. Defective potassium regulation can lead to neuronal hyperexcitability. There are three families of potassium channels: voltage-gated potassium channels or VGKC (Kv1.1-Kv1.8), inward rectifier K+ channels (Kir), and two-pore channels (K2p). VGK channels are the commonest, and especially those belonging to the Shaker group (neuromyotonia and Morvan's syndrome, limbic encephalitis, and type 1 episodic ataxia). Brain and heart K+ channelopathies are a separate group due to KCNQ1 mutation (severe type 2 long QT syndrome). Kv7 channel mutations (in KNQ2 and KCNQ3) are responsible for benign familial neonatal seizures. Mutation of the Ca+ activated K+ channel gene causes epilepsy and paroxysmal dyskinesia. Inward rectifier K+ channels regulate intracellular potassium levels. The DEND syndrome, a treatable channelopathy of the brain and pancreas, is due to KCNJ1 mutation. Andersen's syndrome, due to KCNJ2 mutation, is characterized by periodic paralysis, cardiac arrythmia, and dysmorphia. Voltage-insensitive K2p channelopathies form a final group.
- Published
- 2010
30. Interpretation of neuropathological lesions: its limitations in medico-legal experts' reports.
- Author
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Piercecchi-Marti MD, De Paula AM, Gavaudan G, Bartoli C, Pelissier-Alicot AL, Leonetti G, and Pellissier JF
- Subjects
- 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.)
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- 2010
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31. 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
- Subjects
- 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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32. 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.
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- 2009
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33. 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.
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- 2009
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34. 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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35. Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation.
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Uro-Coste E, Arné-Bes MC, Pellissier JF, Richard P, Levade T, Heitz F, Figarella-Branger D, and Delisle MB
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- 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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36. [Limbic encephalitis--evolving concepts].
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Serratrice G, Pellissier JF, Serratrice J, and De Paula A
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- Adult, Aged, Autoantigens immunology, Autoimmune Diseases of the Nervous System diagnosis, Autoimmune Diseases of the Nervous System etiology, Autoimmune Diseases of the Nervous System immunology, Child, Encephalitis, Herpes Simplex complications, Female, Forecasting, Hodgkin Disease complications, Hodgkin Disease diagnosis, Humans, Male, Membrane Proteins immunology, Middle Aged, Neoplasms complications, Neoplasms diagnosis, Nerve Tissue Proteins immunology, Potassium Channels, Voltage-Gated immunology, Prognosis, Limbic Encephalitis diagnosis, Limbic Encephalitis etiology, Limbic Encephalitis immunology
- Abstract
Limbic encephalitis is an inflammatory disease localized to the "grand lobe limbique" defined by Broca in 1878, sometimes restricted to the hippocampus, but sometimes including extralimbic abnormalities. The main features are subacute onset, short-term memory disorders and cognitive impairment, temporal seizures, and hippocampic changes on MRI. A list of underlying causes has recently been published Infectious causes used to be frequent (mainly herpes simplex virus). Paraneoplastic limbic encephalitis is characterized by the presence of various onconeural antibodies, such as AntiHu and ANNA3 (bronchial small cell carcinoma), AntiMa2 (testicular tumor), AntiCV2 (lymphoma, thymoma,...). No such antibodies are detected in 40% of patients. The prognosis of these forms is poor. Voltage-gated potassium channel-associated limbic encephalopathies are due to antibodies targeting potassium channels. Mutations of the genes encoding the Kv11 and Kv12 subunits are responsible for several Shaker syndromes, including neuromyotonia, Morvan's disease, type I episodic ataxia, and limbic encephalitis with hyponatremia. Plasma exchanges and immunotherapy are effective. In patients without detectable antibodies, hippocampic anti-neuropil antibodies should be sought, particularly those targeting N-methyl-D-aspartate receptors. Ovarian teratoma is the usual cause of this type of encephalitis. Surgery and immunotherapy are effective. These disorders have been categorized into those associated with antibodies targeting intracellular antigens (poor-prognosis paraneoplastic encephalitis) and those associated with antibodies targeting antigens reacting with cellular membranes (potassium channelopathies and antineuropil antibodies), which respond to immunotherapy and carry a better prognosis. Limbic encephalitis can also reveal Hodgkin's disease, as in a case observed by the authors.
- Published
- 2008
37. [Esophageal achalasia, sleep disorders and chorea in a tauopathy without ophthalmoplegia, parkinsonian syndrome, nor dementia (progressive supranuclear palsy?): clinicopathological study].
- Author
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Kaphan E, Pellissier JF, Rey M, Robert D, Auphan M, and Ali Chérif A
- Subjects
- Chorea complications, Deglutition Disorders etiology, Diagnosis, Differential, Esophageal Achalasia complications, Esophageal Achalasia diagnostic imaging, Female, Humans, Hypoglossal Nerve pathology, Inclusion Bodies pathology, Middle Aged, Radiography, Respiratory Distress Syndrome etiology, Respiratory Distress Syndrome surgery, Sleep Wake Disorders complications, Substantia Nigra pathology, Supranuclear Palsy, Progressive diagnosis, Tracheostomy, Chorea pathology, Esophageal Achalasia pathology, Sleep Wake Disorders pathology, Supranuclear Palsy, Progressive pathology
- Abstract
Context: Progressive supranuclear palsy (PSP) is classically characterized by supranuclear ophthalmoplegia, paroxysmal imbalance with backward falling, axial dystonia, rigidity, pseudobulbar palsy and cognitive dysfunction. However, incomplete or atypical clinical presentation has been previously reported, but in all these cases, the patients had at least one of the main clinical features of the disease (ophthalmoplegia, parkinsonian syndrome or cognitive dysfunction)., Case Report: A 60-year-old woman presented with nocturnal agitation and choreiform movements. A few months later she developed severe swallowing disorders, caused by achalasia of the upper esophageal sphincter, and responsible for recurrent acute respiratory distress and pneumonia, prevailing to tracheotomy and gastrostomy. She died suddenly two years after the onset of the symptoms., Results: Postmortem examination of brain revealed a tauopathy, with deposition of abnormal phosphorylated tau in threads and in coiled-shaped as well as globose tangles in the brainstem, subthalamic nuclei and hippocampus. Nuclei of the medulla, including the vagus/solitarius complex and the region of the nucleus ambiguous were especially rich in tau positive inclusions. Ultrastructural analysis of globoid-shaped tangles in the brainstem revealed the presence of straight and paired helicoidal filaments compatible with a PSP., Conclusions: This case contributes to improve knowledge of the clinical phenotypic range of PSP. In this case, the neuropathological lesions accounted for most of the symptoms. However, the early death of the patient was probably related to the particular distribution of the neuropathological lesions. This case suggests that the initial neuropathological changes in PSP is located in the dorsal brainstem.
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- 2008
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38. [A retrospective study of six patients with late-onset Pompe disease].
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Saux A, Laforet P, Pagès AM, Figarella-Branger D, Pellissier JF, Pagès M, and Labauge P
- Subjects
- Adult, Age of Onset, Biopsy, Disease Progression, Dyspnea etiology, Dyspnea physiopathology, Female, Gait Disorders, Neurologic etiology, Gait Disorders, Neurologic physiopathology, Glycogen Storage Disease Type II diagnosis, Humans, Male, Middle Aged, Muscle Fatigue physiology, Muscles pathology, Respiratory Insufficiency etiology, Retrospective Studies, alpha-Glucosidases metabolism, Glycogen Storage Disease Type II pathology
- Abstract
Introduction: Pompe's disease, also called glycogen storage disease type II or acid maltase deficiency, is an autosomal recessive disease caused by an enzymatic deficiency of acid-alpha-glucosidase (GAA). This deficiency causes an accumulation of intralysosomal glycogen in different organs. The classic form appears in the newborn with a very severe hypotonia and cardiomyopathy, which lead to death before age two. Less frequently, the disease appears only in childhood or in adult life, so called late-onset Pompe's disease. This form causes a very progressive limb-girdle myopathy and restrictive respiratory failure. The diagnosis is based on a low level of GAA either in the muscle biopsy or in the leucocytes. We report six cases of late-onset Pompe's disease from the Languedoc-Roussillon district., Method: Our work was a retrospective analysis of all cases of Pompe disease diagnosed in adults between 1975 and 2006 at the Montpellier and Nîmes University Hospital. We describe the clinical presentation and course of this form and explain the diagnostic approach. Results. The mean age at onset was 44.3 years (range: 36-60 years). The first symptom was fatigability (50%), gait difficulty (50%) and dyspnea (16%). The mean delay from symptom onset to diagnosis was 8.4 years (range: 17 years). Fatal outcome due to respiratory failure was noted in three patients. The mean time between symptom onset and death (four patients) was 20.75 years (range: 37 years). The diagnosis was made on the muscle biopsy showing a low level of GAA. Muscle was strictly normal on the morphologic study in one patient, pointing out the requirement for enzymatic analysis. Molecular confirmation was available in one patient., Discussion: Late-onset Pompe's disease is a possible cause of limb-girdle myopathy. Respiratory involvement is a characteristic feature. Enzymatic assay of GAA activity on the muscle biopsy is required for certain diagnosis., Conclusion: It is very important to recognize the adult form of Pompe's disease, a possible cause of limb-girdle myopathy, in order to search for respiratory failure and propose non-invasive ventilation if necessary. Moreover, substitutive therapy (recombinant acid-alpha-glucosidase) has shown efficiency for the classical infantile form of Pompe's disease and such treatment could be proposed for the adult form if larger studies confirm its efficacy.
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- 2008
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39. 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.
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- 2008
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40. Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy.
- Author
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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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41. [Foreword - macrophage mediated myofasciites].
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Guis S and Pellissier JF
- Subjects
- Humans, Fasciitis pathology, Macrophages pathology
- Published
- 2007
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42. [Brain magnetic resonance imaging and neuropathology of cortical laminar necrosis].
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Laksiri N, Kaphan E, Pellissier JF, and Ali Chérif A
- Subjects
- Delirium etiology, Hernia, Umbilical complications, Humans, Hypoxia, Brain pathology, Magnetic Resonance Imaging, Male, Middle Aged, Necrosis, Amnesia etiology, Brain pathology, Cerebral Cortex pathology, Postoperative Complications pathology
- Abstract
Introduction: The most frequent acute and sub-acute complications of chronic alcoholism are delirium tremens, hepatic encephalopathy and Gayet-Wernicke encephalopathy. Morel laminar sclerosis is a rare and less known complication, often reported with Marchiafava-Bignami disease., Case Report: A 57-year-old alcoholic man presented delirium after surgery. Anterograde and retrograde amnesia as well as wrong recognitions appeared progressively and one generalized seizure occurred. He then developed mutism and became bedridden. Magnetic resonance imaging (MRI) showed high-intensity bilateral temporoparietal signals from white matter on T2-weighted images and high-intensity signals from the parietal cortex on T1-weighted images. The patient died four months after the onset of the delirium. Post-mortem examination of the brain showed cortical laminar necrosis with Alzheimer Type II gliosis but without demyelinisation of the corpus callosum., Conclusion: Cortical laminar necrosis with chronic ethylism is usually called Morel's laminar sclerosis. Nevertheless, histology is not typical of this diagnosis, because of necrosis especially of the second (and not the third) layer of the cortex, and because of the absence of lesion of the corpus callosum. MRI data are of interest here because they were rarely reported in cases of Morel's laminar sclerosis.
- Published
- 2007
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43. 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.
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- 2007
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44. [Fasciitis with eosinophilia: a possible causal role of angiotensin converting enzyme inhibitor].
- Author
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Serratrice J, Pellissier JF, Champsaur P, and Weiller PJ
- Subjects
- Adult, Angioedema chemically induced, Angiotensin-Converting Enzyme Inhibitors therapeutic use, Drug Eruptions etiology, Female, Humans, Hypertension drug therapy, Hypertension etiology, Obesity complications, Ramipril therapeutic use, Angiotensin-Converting Enzyme Inhibitors adverse effects, Eosinophilia chemically induced, Fasciitis chemically induced, Ramipril adverse effects
- Abstract
Among neuroeosinophilic syndromes, neuromuscular disorders are considered as a special group, including perimyosistis, polymyositis and fasciitis. These three disorders are considered as a continuum. They usually without a recognized cause, and are considered to be spontaneous or exercise-induced. We report the case of a 43 year-old woman who experienced angioedema followed by an histologically proven-fasciitis with eosinophilia after Ramipril (Triatec) use. Causal attribution to Ramipril was considered "plausible". To our knowledge this side effect has never been reported with this drug.
- Published
- 2007
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45. Metabosensitive afferent fiber responses after peripheral nerve injury and transplantation of an acellular muscle graft in association with schwann cells.
- Author
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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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46. Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques.
- Author
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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.
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- 2006
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47. In vivo and in vitro characterization of skeletal muscle metabolism in patients with statin-induced adverse effects.
- Author
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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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48. Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
- Author
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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
- Full Text
- View/download PDF
49. 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
50. 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
- Full Text
- View/download PDF
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