Medja, Fadia Lelièvre, Vincent Fontaine, Romain H Lebas, Fanny Leroux, Philippe Ouimet, Tanja Saria, Alois Rougeot, Catherine Dournaud, Pascal Pierre Gressens
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Published in
The Journal of experimental medicine
Excitotoxic damage appears to be a critical factor in the formation of perinatal brain lesions associated with cerebral palsy (CP). When injected into newborn mice, the glutamatergic analogue, ibotenate, produces cortical lesions and white matter cysts that mimic human perinatal brain lesions. Neuropeptides are neuronal activity modulators and coul...
Duering, Marco Csanadi, Endy Gesierich, Benno Jouvent, Eric Hervé, Dominique Seiler, Stephan Belaroussi, Boubakeur Ropele, Stefan Schmidt, Reinhold Hugues Chabriat
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Published in
The Journal of experimental medicine
White matter hyperintensities and lacunes are among the most frequent abnormalities on brain magnetic resonance imaging. They are commonly related to cerebral small vessel disease and associated with both stroke and dementia. We examined the spatial relationships between incident lacunes and white matter hyperintensities and related these findings ...
Bahi-Buisson, Nadia Nectoux, Juliette Rosas-Vargas, Haydeé Milh, Mathieu Nathalie Boddaert Girard, Benoit Cances, Claude Ville, Dorothée Afenjar, Alexandra Rio, Marlène
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Published in
The Journal of experimental medicine
Mutations in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been shown to cause infantile spasms as well as Rett syndrome (RTT)-like phenotype. To date, less than 25 different mutations have been reported. So far, there are still little data on the key clinical diagnosis criteria and on the natural history of CDKL5-associated e...
Bahi-Buisson, Nadia Poirier, Karine Fourniol, Franck Saillour, Yoann Valence, Stéphanie Lebrun, Nicolas Hully, Marie Bianco, Catherine Fallet Nathalie Boddaert Elie, Caroline
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Published in
The Journal of experimental medicine
Complex cortical malformations associated with mutations in tubulin genes: TUBA1A, TUBA8, TUBB2B, TUBB3, TUBB5 and TUBG1 commonly referred to as tubulinopathies, are a heterogeneous group of conditions with a wide spectrum of clinical severity. Among the 106 patients selected as having complex cortical malformations, 45 were found to carry mutation...
Pascale Piolino Desgranges, Béatrice Belliard, Serge Matuszewski, Vanessa Lalevée, Catherine De la Sayette, Vincent Eustache, Francis
Published in
The Journal of experimental medicine
Few studies have investigated autobiographical amnesia in neurodegenerative diseases and yet these pathologies are particularly relevant when addressing the issue of theories of long-term memory consolidation. According to the standard model, the medial temporal lobe (MTL) is involved in the storage and retrieval of episodic and semantic memories d...
Viswanathan, Anand Guichard, Jean-Pierre Gschwendtner, Andreas Buffon, Frederique Cumurcuic, Rodica Boutron, Carole Vicaut, Eric Holtmannspötter, Markus Pachai, Chahin Bousser, Marie-Germaine
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Published in
The Journal of experimental medicine
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a hereditary arteriopathy caused by mutations of the Notch3 gene. The risk factors for cerebral microhaemorrhages (CM), their relationship to other MRI lesions in the disease and their potential clinical impact have not been previously defined. O...
Huang, Shouxiong Gilfillan, Susan Kim, Sojung Thompson, Bruce Wang, Xiaoli Sant, Andrea J Fremont, Daved H Lantz, Olivier Hansen, Ted H
Published in
The Journal of experimental medicine
Like CD1d-restricted iNKT cells, mucosal-associated invariant T cells (MAITs) are "innate" T cells that express a canonical TCRalpha chain, have a memory phenotype, and rapidly secrete cytokines upon TCR ligation. Unlike iNKT cells, MAIT cells require the class Ib molecule MHC-related protein I (MR1), B cells, and gut flora for development and/or e...
Sarzi, Emmanuelle Angebault, Claire Seveno, Marie Gueguen, Naïg Chaix, Benjamin Bielicki, Guy Boddaert, Nathalie Mausset-Bonnefont, Anne-Laure Cazevieille, Chantal Rigau, Valérie
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Published in
The Journal of experimental medicine
Dominant optic atrophy is a rare inherited optic nerve degeneration caused by mutations in the mitochondrial fusion gene OPA1. Recently, the clinical spectrum of dominant optic atrophy has been extended to frequent syndromic forms, exhibiting various degrees of neurological and muscle impairments frequently found in mitochondrial diseases. Although...
Zhang, Shu Pondarre, Corinne Pennarun, Gaelle Labussiere-Wallet, Helene Vera, Gabriella France, Benoit Chansel, Marie Rouvet, Isabelle Revy, Patrick Lopez, Bernard
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Published in
The Journal of experimental medicine
Inherited bone marrow failure syndromes are human conditions in which one or several cell lineages of the hemopoietic system are affected. They are present at birth or may develop progressively. They are sometimes accompanied by other developmental anomalies. Three main molecular causes have been recognized to result in bone marrow failure syndrome...
Monet-Leprêtre, Marie Bardot, Boris Lemaire, Barbara Domenga, Valérie Godin, Ophélia Dichgans, Martin Tournier-Lasserve, Elisabeth Cohen-Tannoudji, Michel Chabriat, Hugues Joutel, Anne
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Published in
The Journal of experimental medicine
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant small-vessel disease of the brain caused by mutations in the NOTCH3 receptor. The highly stereotyped nature of the mutations, which alter the number of cysteine residues within the epidermal growth factor-like repeats (EGFR)...
