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11 results on '"Penisson-Besnier I"'

1. Development and validation of a motor function classification in patients with neuromuscular disease: The NM-Score

Author

Le Flem, A., Barrière, A., Rouyer, A.P., Fontaine, S., Vadot, J.-P., Luc Pupat, E., Chartier, Y., Vincent-Genod, D., Girardot, F., Manel, V., Aubert, F., Rode, G., Denis, D., Germa, V., Quijano, S., Pelligrini, N., d’Anjou, M.C., Féasson, L., Chabrier, S., Furby, A., Goyet, C., Delmas, M.C., Campech, M., Robert, F., Hovart, H., Cuisset, J.-M., Badoil, I., Fafin, C., Tanant, V., Sacconi, S., Gayraud, J.-P., Carpentier, A., Vanderschueren, S., Bourdeauducq, I., Salicio-Castillo, D., Cobo, A.M., Commare, M.C., Farigoule, V., Huzar, C., Berger, B., Humbertclaude, V., Rumeau, F., Viehweger, E., Payet-Laury, C., Penisson-Besnier, I., Kinet, V., Laridant, D., Spehrs-Ciaffi, V., Bassez, G., Goemans, N., Pichancourt, D., Jezequel, L., Vedrenne, N., Vuillerot, C., Rippert, P., Roche, S., Bérard, C., Margirier, F., de Lattre, C., Poirot, I., Berruyer, A., Tiffreau, V., Fournier-Mehouas, M., Bouhour, F., Urtizberea, J.-A., Renders, A., and Ecochard, R.

Published
2013
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4. Compound heterozygous mutations of the TNXB gene cause primary myopathy

Author

Penisson-Besnier, I., Allamand, V., Beurrier, P., Martin, L., Schalkwijk, J., Vlijmen-Willems, I. van, Gartioux, C., Malfait, F., Syx, D., Macchi, L., Marcorelles, P., Arbeille, B., Croue, A., Paepe, A. de, Dubas, F., Penisson-Besnier, I., Allamand, V., Beurrier, P., Martin, L., Schalkwijk, J., Vlijmen-Willems, I. van, Gartioux, C., Malfait, F., Syx, D., Macchi, L., Marcorelles, P., Arbeille, B., Croue, A., Paepe, A. de, and Dubas, F.

Abstract

Item does not contain fulltext, Complete deficiency of the extracellular matrix glycoprotein tenascin-X (TNX) leads to recessive forms of Ehlers-Danlos syndrome, clinically characterized by hyperextensible skin, easy bruising and joint hypermobility. Clinical and pathological studies, immunoassay, and molecular analyses were combined to study a patient suffering from progressive muscle weakness. Clinical features included axial and proximal limb muscle weakness, subclinical heart involvement, minimal skin hyperextensibility, no joint abnormalities, and a history of easy bruising. Skeletal muscle biopsy disclosed striking muscle consistency and the abnormal presence of myotendinous junctions in the muscle belly. TNX immunostaining was markedly reduced in muscle and skin, and serum TNX levels were undetectable. Compound heterozygous mutations were identified: a previously reported 30kb deletion and a non-synonymous novel missense mutation in the TNXB gene. This study identifies a TNX-deficient patient presenting with a primary muscle disorder, thus expanding the phenotypic spectrum of TNX-related abnormalities. Biopsy findings provide evidence that TNX deficiency leads to muscle softness and to mislocalization of myotendinous junctions.

Published
2013

5. Development and validation of a motor function classification in patients with neuromuscular disease: The NM-Score

Author

Vuillerot, C., primary, Rippert, P., additional, Roche, S., additional, Bérard, C., additional, Margirier, F., additional, de Lattre, C., additional, Poirot, I., additional, Berruyer, A., additional, Tiffreau, V., additional, Fournier-Mehouas, M., additional, Bouhour, F., additional, Urtizberea, J.-A., additional, Renders, A., additional, Ecochard, R., additional, Le Flem, A., additional, Barrière, A., additional, Rouyer, A.P., additional, Fontaine, S., additional, Vadot, J.-P., additional, Luc Pupat, E., additional, Chartier, Y., additional, Vincent-Genod, D., additional, Girardot, F., additional, Manel, V., additional, Aubert, F., additional, Rode, G., additional, Denis, D., additional, Germa, V., additional, Quijano, S., additional, Pelligrini, N., additional, d’Anjou, M.C., additional, Féasson, L., additional, Chabrier, S., additional, Furby, A., additional, Goyet, C., additional, Delmas, M.C., additional, Campech, M., additional, Robert, F., additional, Hovart, H., additional, Cuisset, J.-M., additional, Badoil, I., additional, Fafin, C., additional, Tanant, V., additional, Sacconi, S., additional, Gayraud, J.-P., additional, Carpentier, A., additional, Vanderschueren, S., additional, Bourdeauducq, I., additional, Salicio-Castillo, D., additional, Cobo, A.M., additional, Commare, M.C., additional, Farigoule, V., additional, Huzar, C., additional, Berger, B., additional, Humbertclaude, V., additional, Rumeau, F., additional, Viehweger, E., additional, Payet-Laury, C., additional, Penisson-Besnier, I., additional, Kinet, V., additional, Laridant, D., additional, Spehrs-Ciaffi, V., additional, Bassez, G., additional, Goemans, N., additional, Pichancourt, D., additional, Jezequel, L., additional, and Vedrenne, N., additional

Published
2013
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8. Extracranial and intracranial vertebrobasilar dissections: diagnosis and prognosis

Author

Bray, J.M. de, Penisson-Besnier, I., Dubas, F., and Emile, J.

Abstract

Objectives To compare the diagnosis and prognosis of extracranial versus intracranial vertebral artery dissections without intracerebral haemorrhage. Methods Twenty two vertebral artery dissections were defined by intra-arterial angiography and classified in two groups: group 1, nine extracranial dissections (seven patients) and group 2, 13 intracranial dissections (nine patients), involving the basilar artery in five cases. Bilateral dissections were found in 38% of the population. Before angiography, all the patients had been investigated by continuous wave Doppler, colour coded Doppler, and transcranial Doppler. Mean follow up was 44 months. Results The two most important symptoms of both dissections (81% of patients) were unbearable pain preceding stroke and progressive onset of stroke within a few hours. Severe ultrasonic abnormalities were present in 94% of the patients whereas specific ultrasonic signs (segmental dilation with eccentric channel) were rare (19%) in both groups. Major strokes and brainstem strokes represented respectively 67% and 78% in intracranial versus 43% and 29% in extracranial dissections. Severe sequelae (permanent disabling motor or cerebellar deficit) were more often associated with intracranial (44%) than with extracranial dissections (14%). No recurrence of dissection and no cerebral haemorrhage were found under heparin. Significant factors of poor outcome (P< 0.05) were the initial severity of the stroke and the bilateral location of dissections. Conclusion The combination of a pain and a progressive onset of the stroke, corroborated by ultrasonic findings, could have helped to recognise most of these types of dissections. Intracranial dissections have a poorer prognosis than extracranial dissections.

Published
1997

9. Immunohistochemical and virological features of HTLV-1-associated myosites: a study of 13 patients from West Indies and Africa

Author

Martin-Latil Sandra, Bassot Sylviane, Khun Huot, Cumont Marie-Christine, Huerre Michel, Wattel Eric, Mortreux Franck, Morin Anne-Sophie, Texeira Antonio, Chérin Patrick, Haroche Julien, Amoura Zahir, Lacour Arnaud, Papo Thomas, Marcorelles Pascale, Zagnoli Fabien, Penisson-Besnier Isabelle, Mikol Jacqueline, Polivka Marc, Hermine Olivier, Aouba Achille, Desrames Alexandra, Maisonobe Thierry, Cassar Olivier, Desdouits Marion, Taylor Graham, Gessain Antoine, Ozden Simona, and Ceccaldi Pierre-Emmanuel

Subjects
Immunologic diseases. Allergy, RC581-607
Published
2011
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10. Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.

Author

Nectoux J, de Cid R, Baulande S, Leturcq F, Urtizberea JA, Penisson-Besnier I, Nadaj-Pakleza A, Roudaut C, Criqui A, Orhant L, Peyroulan D, Ben Yaou R, Nelson I, Cobo AM, Arné-Bes MC, Uro-Coste E, Nitschke P, Claustres M, Bonne G, Lévy N, Chelly J, Richard I, and Cossée M

Subjects
Adult, Base Sequence, DNA Mutational Analysis methods, Family Health, Female, Humans, Male, Muscular Dystrophies, Limb-Girdle pathology, Pedigree, Tripartite Motif Proteins, Ubiquitin-Protein Ligases, Comparative Genomic Hybridization methods, Gene Deletion, High-Throughput Nucleotide Sequencing methods, Muscular Dystrophies, Limb-Girdle genetics, Transcription Factors genetics
Abstract

Defects in TRIM32 were reported in limb-girdle muscular dystrophy type 2H (LGMD2H), sarcotubular myopathies (STM) and in Bardet-Biedl syndrome. Few cases have been described to date in LGMD2H/STM, but this gene is not systematically analysed because of the absence of specific signs and difficulties in protein analysis. By using high-throughput variants screening techniques, we identified variants in TRIM32 in two patients presenting nonspecific LGMD. We report the first case of total inactivation by homozygous deletion of the entire TRIM32 gene. Of interest, the deletion removes part of the ASTN2 gene, a large gene in which TRIM32 is nested. Despite the total TRIM32 gene inactivation, the patient does not present a more severe phenotype. However, he developed a mild progressive cognitive impairment that may be related to the loss of function of ASTN2 because association between ASTN2 heterozygous deletions and neurobehavioral disorders was previously reported. Regarding genomic characteristics at breakpoint of the deleted regions of TRIM32, we found a high density of repeated elements, suggesting a possible hotspot. These observations illustrate the importance of high-throughput technologies for identifying molecular defects in LGMD, confirm that total loss of function of TRIM32 is not associated with a specific phenotype and that TRIM32/ASTN2 inactivation could be associated with cognitive impairment.

Published
2015
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11. mtDNA haplogroup J: a contributing factor of optic neuritis.

Author

Reynier P, Penisson-Besnier I, Moreau C, Savagner F, Vielle B, Emile J, Dubas F, and Malthièry Y

Subjects
Alleles, Female, Humans, Male, Multiple Sclerosis physiopathology, Phenotype, DNA, Mitochondrial, Multiple Sclerosis genetics, Optic Neuritis genetics
Abstract

Optic neuritis frequently occurs in multiple sclerosis (MS), and shares several similarities with the optic neuritis of Leber's hereditary optic neuropathy (LHON), which is mainly due to maternally transmitted mitochondrial DNA (mtDNA) mutations. Our report shows for the first time that a mitochondrial DNA background could influence the clinical expression of MS. One European mtDNA haplogroup was found only in MS patients with optic neuritis but not in MS patients without visual symptoms. Therefore, we hypothesize that mtDNA haplogroup J might constitute a risk factor for optic neuritis occurrence when it is coincidentally associated with MS, but not be a risk factor for developing MS per se as suggested previously.

Published
1999
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