Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region.
Identifieur interne : 002170 ( Main/Exploration ); précédent : 002169; suivant : 002171Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region.
Auteurs : Jean-Michel Vallat ; Mathilde Nizon ; Alex Magee ; Bertrand Isidor ; Laurent Magy ; Yann Péréon ; Laurence Richard ; Robert Ouvrier ; Benjamin Cogné ; Jérôme Devaux ; Stephan Zuchner ; Stéphane MathisSource :
- Journal of neuropathology and experimental neurology [ 1554-6578 ] ; 2016.
Descripteurs français
- KwdFr :
- MESH :
- anatomopathologie : Nerf sural.
- génétique : Molécules d'adhérence cellulaire neuronale, Mutation.
- physiologie : Nerf sural.
- ultrastructure : Humains, Mâle, Nerf sural, Nouveau-né, Pedigree.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Cell Adhesion Molecules, Neuronal.
- genetics : Mutation.
- pathology : Sural Nerve.
- physiology : Sural Nerve.
- ultrastructure : Sural Nerve.
- Humans, Infant, Newborn, Male, Pedigree.
Abstract
Congenital hypomyelinating neuropathy is a rare neonatal syndrome responsible for hypotonia and weakness. Nerve microscopic examination shows amyelination or hypomyelination. Recently, mutations in CNTNAP1 have been described in a few patients. CNTNAP1 encodes contactin-associated protein 1 (caspr-1), which is an essential component of the paranodal junctions of the peripheral and central nervous systems, and is necessary for the establishment of transverse bands that stabilize paranodal axo-glial junctions. We present the results of nerve biopsy studies of three patients from two unrelated, non-consanguineous families with compound heterozygous CNTNAP1 mutations. The lesions were identical, characterized by a hypomyelinating process; on electron microscopy, we detected, in all nodes of Ranvier, subtle lesions that have never been previously described in human nerves. Transverse bands of the myelin loops were absent, with a loss of attachment between myelin and the axolemma; elongated Schwann cell processes sometimes dissociated the Schwann cell and axon membranes that bound the space between them. These lesions were observed in the area where caspr-1 is located and are reminiscent of the lesions reported in sciatic nerves of caspr-1 null mice. CNTNAP1 mutations appear to induce characteristic ultrastructural lesions of the paranodal region.
DOI: 10.1093/jnen/nlw093
PubMed: 27818385
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region.</title><author><name sortKey="Vallat, Jean Michel" sort="Vallat, Jean Michel" uniqKey="Vallat J" first="Jean-Michel" last="Vallat">Jean-Michel Vallat</name><affiliation><nlm:affiliation>From the Department of Neurology and 'Centre de Référence des neuropathies rares', University Hospital (CHU) Limoges, Limoges, France (JMV, LM and LR); Department of Medical Genetics, University Hospital (CHU) Nantes, Nantes, France (MN, BI and BC); Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland (AM); Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Hospital, Nantes, France (YP); The Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia (RO); CNRS, CRN2M-UMR 7286, Aix-Marseille University, Marseille, France (JD); Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida (SZ); Department of Neurology, Nerve-Muscle Unit, University Hospital (CHU) Pellegrin, Bordeaux, France (SM).</nlm:affiliation><wicri:noCountry code="subField">France (SM)</wicri:noCountry></affiliation></author><author><name sortKey="Nizon, Mathilde" sort="Nizon, Mathilde" uniqKey="Nizon M" first="Mathilde" last="Nizon">Mathilde Nizon</name><affiliation><nlm:affiliation>From the Department of Neurology and 'Centre de Référence des neuropathies rares', University Hospital (CHU) Limoges, Limoges, France (JMV, LM and LR); Department of Medical Genetics, University Hospital (CHU) Nantes, Nantes, France (MN, BI and BC); Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland (AM); Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Hospital, Nantes, France (YP); The Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia (RO); CNRS, CRN2M-UMR 7286, Aix-Marseille University, Marseille, France (JD); Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida (SZ); Department of Neurology, Nerve-Muscle Unit, University Hospital (CHU) Pellegrin, Bordeaux, France (SM).</nlm:affiliation><wicri:noCountry code="subField">France (SM)</wicri:noCountry></affiliation></author><author><name sortKey="Magee, Alex" sort="Magee, Alex" uniqKey="Magee A" first="Alex" last="Magee">Alex Magee</name><affiliation><nlm:affiliation>From the Department of Neurology and 'Centre de Référence des neuropathies rares', University Hospital (CHU) Limoges, Limoges, France (JMV, LM and LR); Department of Medical Genetics, University Hospital (CHU) Nantes, Nantes, France (MN, BI and BC); Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland (AM); Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Hospital, Nantes, France (YP); The Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia (RO); CNRS, CRN2M-UMR 7286, Aix-Marseille University, Marseille, France (JD); Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida (SZ); Department of Neurology, Nerve-Muscle Unit, University Hospital (CHU) Pellegrin, Bordeaux, France (SM).</nlm:affiliation><wicri:noCountry code="subField">France (SM)</wicri:noCountry></affiliation></author><author><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name><affiliation><nlm:affiliation>From the Department of Neurology and 'Centre de Référence des neuropathies rares', University Hospital (CHU) Limoges, Limoges, France (JMV, LM and LR); Department of Medical Genetics, University Hospital (CHU) Nantes, Nantes, France (MN, BI and BC); Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland (AM); Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Hospital, Nantes, France (YP); The Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia (RO); CNRS, CRN2M-UMR 7286, Aix-Marseille University, Marseille, France (JD); Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida (SZ); Department of Neurology, Nerve-Muscle Unit, University Hospital (CHU) Pellegrin, Bordeaux, France (SM).</nlm:affiliation><wicri:noCountry code="subField">France (SM)</wicri:noCountry></affiliation></author><author><name sortKey="Magy, Laurent" sort="Magy, Laurent" uniqKey="Magy L" first="Laurent" last="Magy">Laurent Magy</name><affiliation><nlm:affiliation>From the Department of Neurology and 'Centre de Référence des neuropathies rares', University Hospital (CHU) Limoges, Limoges, France (JMV, LM and LR); Department of Medical Genetics, University Hospital (CHU) Nantes, Nantes, France (MN, BI and BC); Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland (AM); Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Hospital, Nantes, France (YP); The Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia (RO); CNRS, CRN2M-UMR 7286, Aix-Marseille University, Marseille, France (JD); Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida (SZ); Department of Neurology, Nerve-Muscle Unit, University Hospital (CHU) Pellegrin, Bordeaux, France (SM).</nlm:affiliation><wicri:noCountry code="subField">France (SM)</wicri:noCountry></affiliation></author><author><name sortKey="Pereon, Yann" sort="Pereon, Yann" uniqKey="Pereon Y" first="Yann" last="Péréon">Yann Péréon</name><affiliation><nlm:affiliation>From the Department of Neurology and 'Centre de Référence des neuropathies rares', University Hospital (CHU) Limoges, Limoges, France (JMV, LM and LR); Department of Medical Genetics, University Hospital (CHU) Nantes, Nantes, France (MN, BI and BC); Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland (AM); Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Hospital, Nantes, France (YP); The Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia (RO); CNRS, CRN2M-UMR 7286, Aix-Marseille University, Marseille, France (JD); Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida (SZ); Department of Neurology, Nerve-Muscle Unit, University Hospital (CHU) Pellegrin, Bordeaux, France (SM).</nlm:affiliation><wicri:noCountry code="subField">France (SM)</wicri:noCountry></affiliation></author><author><name sortKey="Richard, Laurence" sort="Richard, Laurence" uniqKey="Richard L" first="Laurence" last="Richard">Laurence Richard</name><affiliation><nlm:affiliation>From the Department of Neurology and 'Centre de Référence des neuropathies rares', University Hospital (CHU) Limoges, Limoges, France (JMV, LM and LR); Department of Medical Genetics, University Hospital (CHU) Nantes, Nantes, France (MN, BI and BC); Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland (AM); Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Hospital, Nantes, France (YP); The Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia (RO); CNRS, CRN2M-UMR 7286, Aix-Marseille University, Marseille, France (JD); Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida (SZ); Department of Neurology, Nerve-Muscle Unit, University Hospital (CHU) Pellegrin, Bordeaux, France (SM).</nlm:affiliation><wicri:noCountry code="subField">France (SM)</wicri:noCountry></affiliation></author><author><name sortKey="Ouvrier, Robert" sort="Ouvrier, Robert" uniqKey="Ouvrier R" first="Robert" last="Ouvrier">Robert Ouvrier</name><affiliation><nlm:affiliation>From the Department of Neurology and 'Centre de Référence des neuropathies rares', University Hospital (CHU) Limoges, Limoges, France (JMV, LM and LR); Department of Medical Genetics, University Hospital (CHU) Nantes, Nantes, France (MN, BI and BC); Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland (AM); Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Hospital, Nantes, France (YP); The Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia (RO); CNRS, CRN2M-UMR 7286, Aix-Marseille University, Marseille, France (JD); Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida (SZ); Department of Neurology, Nerve-Muscle Unit, University Hospital (CHU) Pellegrin, Bordeaux, France (SM).</nlm:affiliation><wicri:noCountry code="subField">France (SM)</wicri:noCountry></affiliation></author><author><name sortKey="Cogne, Benjamin" sort="Cogne, Benjamin" uniqKey="Cogne B" first="Benjamin" last="Cogné">Benjamin Cogné</name><affiliation><nlm:affiliation>From the Department of Neurology and 'Centre de Référence des neuropathies rares', University Hospital (CHU) Limoges, Limoges, France (JMV, LM and LR); Department of Medical Genetics, University Hospital (CHU) Nantes, Nantes, France (MN, BI and BC); Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland (AM); Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Hospital, Nantes, France (YP); The Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia (RO); CNRS, CRN2M-UMR 7286, Aix-Marseille University, Marseille, France (JD); Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida (SZ); Department of Neurology, Nerve-Muscle Unit, University Hospital (CHU) Pellegrin, Bordeaux, France (SM).</nlm:affiliation><wicri:noCountry code="subField">France (SM)</wicri:noCountry></affiliation></author><author><name sortKey="Devaux, Jerome" sort="Devaux, Jerome" uniqKey="Devaux J" first="Jérôme" last="Devaux">Jérôme Devaux</name><affiliation><nlm:affiliation>From the Department of Neurology and 'Centre de Référence des neuropathies rares', University Hospital (CHU) Limoges, Limoges, France (JMV, LM and LR); Department of Medical Genetics, University Hospital (CHU) Nantes, Nantes, France (MN, BI and BC); Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland (AM); Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Hospital, Nantes, France (YP); The Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia (RO); CNRS, CRN2M-UMR 7286, Aix-Marseille University, Marseille, France (JD); Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida (SZ); Department of Neurology, Nerve-Muscle Unit, University Hospital (CHU) Pellegrin, Bordeaux, France (SM).</nlm:affiliation><wicri:noCountry code="subField">France (SM)</wicri:noCountry></affiliation></author><author><name sortKey="Zuchner, Stephan" sort="Zuchner, Stephan" uniqKey="Zuchner S" first="Stephan" last="Zuchner">Stephan Zuchner</name><affiliation><nlm:affiliation>From the Department of Neurology and 'Centre de Référence des neuropathies rares', University Hospital (CHU) Limoges, Limoges, France (JMV, LM and LR); Department of Medical Genetics, University Hospital (CHU) Nantes, Nantes, France (MN, BI and BC); Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland (AM); Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Hospital, Nantes, France (YP); The Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia (RO); CNRS, CRN2M-UMR 7286, Aix-Marseille University, Marseille, France (JD); Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida (SZ); Department of Neurology, Nerve-Muscle Unit, University Hospital (CHU) Pellegrin, Bordeaux, France (SM).</nlm:affiliation><wicri:noCountry code="subField">France (SM)</wicri:noCountry></affiliation></author><author><name sortKey="Mathis, Stephane" sort="Mathis, Stephane" uniqKey="Mathis S" first="Stéphane" last="Mathis">Stéphane Mathis</name><affiliation><nlm:affiliation>From the Department of Neurology and 'Centre de Référence des neuropathies rares', University Hospital (CHU) Limoges, Limoges, France (JMV, LM and LR); Department of Medical Genetics, University Hospital (CHU) Nantes, Nantes, France (MN, BI and BC); Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland (AM); Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Hospital, Nantes, France (YP); The Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia (RO); CNRS, CRN2M-UMR 7286, Aix-Marseille University, Marseille, France (JD); Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida (SZ); Department of Neurology, Nerve-Muscle Unit, University Hospital (CHU) Pellegrin, Bordeaux, France (SM).</nlm:affiliation><wicri:noCountry code="subField">France (SM)</wicri:noCountry></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:27818385</idno><idno type="pmid">27818385</idno><idno type="doi">10.1093/jnen/nlw093</idno><idno type="wicri:Area/PubMed/Corpus">001506</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001506</idno><idno type="wicri:Area/PubMed/Curation">001484</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001484</idno><idno type="wicri:Area/PubMed/Checkpoint">001484</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001484</idno><idno type="wicri:Area/Ncbi/Merge">003E35</idno><idno type="wicri:Area/Ncbi/Curation">003E35</idno><idno type="wicri:Area/Ncbi/Checkpoint">003E35</idno><idno type="wicri:Area/Main/Merge">002169</idno><idno type="wicri:Area/Main/Curation">002170</idno><idno type="wicri:Area/Main/Exploration">002170</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region.</title><author><name sortKey="Vallat, Jean Michel" sort="Vallat, Jean Michel" uniqKey="Vallat J" first="Jean-Michel" last="Vallat">Jean-Michel Vallat</name><affiliation><nlm:affiliation>From the Department of Neurology and 'Centre de Référence des neuropathies rares', University Hospital (CHU) Limoges, Limoges, France (JMV, LM and LR); Department of Medical Genetics, University Hospital (CHU) Nantes, Nantes, France (MN, BI and BC); Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland (AM); Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Hospital, Nantes, France (YP); The Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia (RO); CNRS, CRN2M-UMR 7286, Aix-Marseille University, Marseille, France (JD); Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida (SZ); Department of Neurology, Nerve-Muscle Unit, University Hospital (CHU) Pellegrin, Bordeaux, France (SM).</nlm:affiliation><wicri:noCountry code="subField">France (SM)</wicri:noCountry></affiliation></author><author><name sortKey="Nizon, Mathilde" sort="Nizon, Mathilde" uniqKey="Nizon M" first="Mathilde" last="Nizon">Mathilde Nizon</name><affiliation><nlm:affiliation>From the Department of Neurology and 'Centre de Référence des neuropathies rares', University Hospital (CHU) Limoges, Limoges, France (JMV, LM and LR); Department of Medical Genetics, University Hospital (CHU) Nantes, Nantes, France (MN, BI and BC); Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland (AM); Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Hospital, Nantes, France (YP); The Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia (RO); CNRS, CRN2M-UMR 7286, Aix-Marseille University, Marseille, France (JD); Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida (SZ); Department of Neurology, Nerve-Muscle Unit, University Hospital (CHU) Pellegrin, Bordeaux, France (SM).</nlm:affiliation><wicri:noCountry code="subField">France (SM)</wicri:noCountry></affiliation></author><author><name sortKey="Magee, Alex" sort="Magee, Alex" uniqKey="Magee A" first="Alex" last="Magee">Alex Magee</name><affiliation><nlm:affiliation>From the Department of Neurology and 'Centre de Référence des neuropathies rares', University Hospital (CHU) Limoges, Limoges, France (JMV, LM and LR); Department of Medical Genetics, University Hospital (CHU) Nantes, Nantes, France (MN, BI and BC); Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland (AM); Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Hospital, Nantes, France (YP); The Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia (RO); CNRS, CRN2M-UMR 7286, Aix-Marseille University, Marseille, France (JD); Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida (SZ); Department of Neurology, Nerve-Muscle Unit, University Hospital (CHU) Pellegrin, Bordeaux, France (SM).</nlm:affiliation><wicri:noCountry code="subField">France (SM)</wicri:noCountry></affiliation></author><author><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name><affiliation><nlm:affiliation>From the Department of Neurology and 'Centre de Référence des neuropathies rares', University Hospital (CHU) Limoges, Limoges, France (JMV, LM and LR); Department of Medical Genetics, University Hospital (CHU) Nantes, Nantes, France (MN, BI and BC); Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland (AM); Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Hospital, Nantes, France (YP); The Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia (RO); CNRS, CRN2M-UMR 7286, Aix-Marseille University, Marseille, France (JD); Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida (SZ); Department of Neurology, Nerve-Muscle Unit, University Hospital (CHU) Pellegrin, Bordeaux, France (SM).</nlm:affiliation><wicri:noCountry code="subField">France (SM)</wicri:noCountry></affiliation></author><author><name sortKey="Magy, Laurent" sort="Magy, Laurent" uniqKey="Magy L" first="Laurent" last="Magy">Laurent Magy</name><affiliation><nlm:affiliation>From the Department of Neurology and 'Centre de Référence des neuropathies rares', University Hospital (CHU) Limoges, Limoges, France (JMV, LM and LR); Department of Medical Genetics, University Hospital (CHU) Nantes, Nantes, France (MN, BI and BC); Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland (AM); Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Hospital, Nantes, France (YP); The Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia (RO); CNRS, CRN2M-UMR 7286, Aix-Marseille University, Marseille, France (JD); Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida (SZ); Department of Neurology, Nerve-Muscle Unit, University Hospital (CHU) Pellegrin, Bordeaux, France (SM).</nlm:affiliation><wicri:noCountry code="subField">France (SM)</wicri:noCountry></affiliation></author><author><name sortKey="Pereon, Yann" sort="Pereon, Yann" uniqKey="Pereon Y" first="Yann" last="Péréon">Yann Péréon</name><affiliation><nlm:affiliation>From the Department of Neurology and 'Centre de Référence des neuropathies rares', University Hospital (CHU) Limoges, Limoges, France (JMV, LM and LR); Department of Medical Genetics, University Hospital (CHU) Nantes, Nantes, France (MN, BI and BC); Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland (AM); Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Hospital, Nantes, France (YP); The Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia (RO); CNRS, CRN2M-UMR 7286, Aix-Marseille University, Marseille, France (JD); Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida (SZ); Department of Neurology, Nerve-Muscle Unit, University Hospital (CHU) Pellegrin, Bordeaux, France (SM).</nlm:affiliation><wicri:noCountry code="subField">France (SM)</wicri:noCountry></affiliation></author><author><name sortKey="Richard, Laurence" sort="Richard, Laurence" uniqKey="Richard L" first="Laurence" last="Richard">Laurence Richard</name><affiliation><nlm:affiliation>From the Department of Neurology and 'Centre de Référence des neuropathies rares', University Hospital (CHU) Limoges, Limoges, France (JMV, LM and LR); Department of Medical Genetics, University Hospital (CHU) Nantes, Nantes, France (MN, BI and BC); Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland (AM); Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Hospital, Nantes, France (YP); The Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia (RO); CNRS, CRN2M-UMR 7286, Aix-Marseille University, Marseille, France (JD); Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida (SZ); Department of Neurology, Nerve-Muscle Unit, University Hospital (CHU) Pellegrin, Bordeaux, France (SM).</nlm:affiliation><wicri:noCountry code="subField">France (SM)</wicri:noCountry></affiliation></author><author><name sortKey="Ouvrier, Robert" sort="Ouvrier, Robert" uniqKey="Ouvrier R" first="Robert" last="Ouvrier">Robert Ouvrier</name><affiliation><nlm:affiliation>From the Department of Neurology and 'Centre de Référence des neuropathies rares', University Hospital (CHU) Limoges, Limoges, France (JMV, LM and LR); Department of Medical Genetics, University Hospital (CHU) Nantes, Nantes, France (MN, BI and BC); Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland (AM); Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Hospital, Nantes, France (YP); The Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia (RO); CNRS, CRN2M-UMR 7286, Aix-Marseille University, Marseille, France (JD); Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida (SZ); Department of Neurology, Nerve-Muscle Unit, University Hospital (CHU) Pellegrin, Bordeaux, France (SM).</nlm:affiliation><wicri:noCountry code="subField">France (SM)</wicri:noCountry></affiliation></author><author><name sortKey="Cogne, Benjamin" sort="Cogne, Benjamin" uniqKey="Cogne B" first="Benjamin" last="Cogné">Benjamin Cogné</name><affiliation><nlm:affiliation>From the Department of Neurology and 'Centre de Référence des neuropathies rares', University Hospital (CHU) Limoges, Limoges, France (JMV, LM and LR); Department of Medical Genetics, University Hospital (CHU) Nantes, Nantes, France (MN, BI and BC); Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland (AM); Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Hospital, Nantes, France (YP); The Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia (RO); CNRS, CRN2M-UMR 7286, Aix-Marseille University, Marseille, France (JD); Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida (SZ); Department of Neurology, Nerve-Muscle Unit, University Hospital (CHU) Pellegrin, Bordeaux, France (SM).</nlm:affiliation><wicri:noCountry code="subField">France (SM)</wicri:noCountry></affiliation></author><author><name sortKey="Devaux, Jerome" sort="Devaux, Jerome" uniqKey="Devaux J" first="Jérôme" last="Devaux">Jérôme Devaux</name><affiliation><nlm:affiliation>From the Department of Neurology and 'Centre de Référence des neuropathies rares', University Hospital (CHU) Limoges, Limoges, France (JMV, LM and LR); Department of Medical Genetics, University Hospital (CHU) Nantes, Nantes, France (MN, BI and BC); Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland (AM); Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Hospital, Nantes, France (YP); The Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia (RO); CNRS, CRN2M-UMR 7286, Aix-Marseille University, Marseille, France (JD); Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida (SZ); Department of Neurology, Nerve-Muscle Unit, University Hospital (CHU) Pellegrin, Bordeaux, France (SM).</nlm:affiliation><wicri:noCountry code="subField">France (SM)</wicri:noCountry></affiliation></author><author><name sortKey="Zuchner, Stephan" sort="Zuchner, Stephan" uniqKey="Zuchner S" first="Stephan" last="Zuchner">Stephan Zuchner</name><affiliation><nlm:affiliation>From the Department of Neurology and 'Centre de Référence des neuropathies rares', University Hospital (CHU) Limoges, Limoges, France (JMV, LM and LR); Department of Medical Genetics, University Hospital (CHU) Nantes, Nantes, France (MN, BI and BC); Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland (AM); Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Hospital, Nantes, France (YP); The Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia (RO); CNRS, CRN2M-UMR 7286, Aix-Marseille University, Marseille, France (JD); Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida (SZ); Department of Neurology, Nerve-Muscle Unit, University Hospital (CHU) Pellegrin, Bordeaux, France (SM).</nlm:affiliation><wicri:noCountry code="subField">France (SM)</wicri:noCountry></affiliation></author><author><name sortKey="Mathis, Stephane" sort="Mathis, Stephane" uniqKey="Mathis S" first="Stéphane" last="Mathis">Stéphane Mathis</name><affiliation><nlm:affiliation>From the Department of Neurology and 'Centre de Référence des neuropathies rares', University Hospital (CHU) Limoges, Limoges, France (JMV, LM and LR); Department of Medical Genetics, University Hospital (CHU) Nantes, Nantes, France (MN, BI and BC); Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland (AM); Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Hospital, Nantes, France (YP); The Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia (RO); CNRS, CRN2M-UMR 7286, Aix-Marseille University, Marseille, France (JD); Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida (SZ); Department of Neurology, Nerve-Muscle Unit, University Hospital (CHU) Pellegrin, Bordeaux, France (SM).</nlm:affiliation><wicri:noCountry code="subField">France (SM)</wicri:noCountry></affiliation></author></analytic><series><title level="j">Journal of neuropathology and experimental neurology</title><idno type="eISSN">1554-6578</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Cell Adhesion Molecules, Neuronal (genetics)</term><term>Humans</term><term>Infant, Newborn</term><term>Male</term><term>Mutation (genetics)</term><term>Pedigree</term><term>Sural Nerve (pathology)</term><term>Sural Nerve (physiology)</term><term>Sural Nerve (ultrastructure)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Humains</term><term>Molécules d'adhérence cellulaire neuronale (génétique)</term><term>Mutation (génétique)</term><term>Mâle</term><term>Nerf sural (anatomopathologie)</term><term>Nerf sural (physiologie)</term><term>Nerf sural (ultrastructure)</term><term>Nouveau-né</term><term>Pedigree</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Cell Adhesion Molecules, Neuronal</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Nerf sural</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Molécules d'adhérence cellulaire neuronale</term><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Sural Nerve</term></keywords><keywords scheme="MESH" qualifier="physiologie" xml:lang="fr"><term>Nerf sural</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Sural Nerve</term></keywords><keywords scheme="MESH" qualifier="ultrastructure" xml:lang="en"><term>Sural Nerve</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Humans</term><term>Infant, Newborn</term><term>Male</term><term>Pedigree</term></keywords><keywords scheme="MESH" qualifier="ultrastructure" xml:lang="fr"><term>Humains</term><term>Mâle</term><term>Nerf sural</term><term>Nouveau-né</term><term>Pedigree</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Congenital hypomyelinating neuropathy is a rare neonatal syndrome responsible for hypotonia and weakness. Nerve microscopic examination shows amyelination or hypomyelination. Recently, mutations in CNTNAP1 have been described in a few patients. CNTNAP1 encodes contactin-associated protein 1 (caspr-1), which is an essential component of the paranodal junctions of the peripheral and central nervous systems, and is necessary for the establishment of transverse bands that stabilize paranodal axo-glial junctions. We present the results of nerve biopsy studies of three patients from two unrelated, non-consanguineous families with compound heterozygous CNTNAP1 mutations. The lesions were identical, characterized by a hypomyelinating process; on electron microscopy, we detected, in all nodes of Ranvier, subtle lesions that have never been previously described in human nerves. Transverse bands of the myelin loops were absent, with a loss of attachment between myelin and the axolemma; elongated Schwann cell processes sometimes dissociated the Schwann cell and axon membranes that bound the space between them. These lesions were observed in the area where caspr-1 is located and are reminiscent of the lesions reported in sciatic nerves of caspr-1 null mice. CNTNAP1 mutations appear to induce characteristic ultrastructural lesions of the paranodal region.</div></front></TEI><affiliations><list></list><tree><noCountry><name sortKey="Cogne, Benjamin" sort="Cogne, Benjamin" uniqKey="Cogne B" first="Benjamin" last="Cogné">Benjamin Cogné</name><name sortKey="Devaux, Jerome" sort="Devaux, Jerome" uniqKey="Devaux J" first="Jérôme" last="Devaux">Jérôme Devaux</name><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name><name sortKey="Magee, Alex" sort="Magee, Alex" uniqKey="Magee A" first="Alex" last="Magee">Alex Magee</name><name sortKey="Magy, Laurent" sort="Magy, Laurent" uniqKey="Magy L" first="Laurent" last="Magy">Laurent Magy</name><name sortKey="Mathis, Stephane" sort="Mathis, Stephane" uniqKey="Mathis S" first="Stéphane" last="Mathis">Stéphane Mathis</name><name sortKey="Nizon, Mathilde" sort="Nizon, Mathilde" uniqKey="Nizon M" first="Mathilde" last="Nizon">Mathilde Nizon</name><name sortKey="Ouvrier, Robert" sort="Ouvrier, Robert" uniqKey="Ouvrier R" first="Robert" last="Ouvrier">Robert Ouvrier</name><name sortKey="Pereon, Yann" sort="Pereon, Yann" uniqKey="Pereon Y" first="Yann" last="Péréon">Yann Péréon</name><name sortKey="Richard, Laurence" sort="Richard, Laurence" uniqKey="Richard L" first="Laurence" last="Richard">Laurence Richard</name><name sortKey="Vallat, Jean Michel" sort="Vallat, Jean Michel" uniqKey="Vallat J" first="Jean-Michel" last="Vallat">Jean-Michel Vallat</name><name sortKey="Zuchner, Stephan" sort="Zuchner, Stephan" uniqKey="Zuchner S" first="Stephan" last="Zuchner">Stephan Zuchner</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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