Genetic spectrum of hereditary neuropathies with onset in the first year of life

Author

BAETS, Jonathan^{1 2 3} ; DECONINCK, Tine^{1 2} ; VAN BOGAERT, Patrick⁶ ; POU-SERRADELL, Adolf⁷ ; BERNERT, Günther⁸ ; DINOPOULOS, Argirios⁹ ; AUER-GRUMBACH, Michaela¹⁰ ; SALLINEN, Satu-Leena¹¹ ; FABRIZI, Gian Maria¹² ; PAULY, Fernand¹³ ; VAN DEN BERGH, Peter¹⁴ ; BILIR, Birdal¹⁵ ; DE VRIENDT, Els^{1 2} ; BATTALOGLU, Esra¹⁵ ; MADRID, Ricardo E¹⁶ ; KABZINSKA, Dagmara¹⁷ ; KOCHANSKI, Andrzej¹⁷ ; TOPALOGLU, Haluk¹⁸ ; MILLER, Geoffrey¹⁹ ; JORDANOVA, Albena^{1 2} ; TIMMERMAN, Vincent^{2 20} ; DE JONGHE, Peter^{1 2 3} ; ZIMON, Magdalena^{1 2} ; YPERZEELE, Laetitia^{1 2 3} ; VAN HOORENBEECK, Kim^{1 2} ; PEETERS, Kristien^{1 2} ; SPIEGEL, Ronen⁴ ; PARMAN, Yesim⁵ ; CEULEMANS, Berten³
[1] Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, 2610 Antwerpen, Belgium
[2] Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, 2610 Antwerpen, Belgium
[3] Division of Neurology, University Hospital Antwerpen (UZA), 2650 Antwerpen, Belgium
[4] Genetic Institute and Paediatric Department, HaEmek Medical Centre, Rappaport Faculty of Medicine, Technion, 18101 Afula, Israel
[5] Department of Neurology, Istanbul Medical Faculty, Istanbul University, 34390 Istanbul, Turkey
[6] Department of Paediatric Neurology, ULB-Hôpital Erasme, 1070 Brussels, Belgium
[7] Department of Neurology, Hospital del Mar, University of Barcelona, 08003 Barcelona, Spain
[8] Department of Paediatrics, University of Vienna, 1090 Vienna, Austria
[9] Department of Paediatrics, University of Athens, Attikon University Hospital, 12462 Athens, Greece
[10] Department of Internal Medicine, Division of Endocrinology and Metabolism, Medical University of Graz, 8010 Graz, Austria
[11] Department of Paediatrics, Genetics Clinic, Tampere University Hospital, 33014 Tampere, Finland
[12] Section of Clinical Neurology, Department of Neurological and Visual Sciences, University of Verona, 37134 Verona, Italy
[13] Centre Hospitalier de Luxembourg, 1210 Luxembourg, Luxembourg
[14] Service de Neurologie, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, 1200 Brussels, Belgium
[15] Department of Molecular Biology and Genetics, Bogazici University, 34342 Istanbul, Turkey
[16] Institute for Basic Research, George A. Jervis Clinic, Staten Island, 10314 New York, United States
[17] Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, 02-106 Warsaw, Poland
[18] Department of Paediatric Neurology, Faculty of Medicine, Hacettepe University, 06100 Ankara, Turkey
[19] Paediatric Neurology Section, Yale University School of Medicine, 06510 New Haven, CT, United States
[20] Peripheral Neuropathy group, VIB Department of Molecular Genetics, University of Antwerp, 2610 Antwerpen, Belgium

Source

Brain. 2011, Vol 134, pp 2664-2676, 13 p ; 9 ; ref : 1 p

ISSN

0006-8950

Scientific domain

Cognition; Neurology

Publisher

Oxford University Press, Oxford

Publication country

United Kingdom

Document type

Article

Language

English

Author keyword

Charcot―Marie―Tooth disease Dejerine-Sottas neuropathy congenital hypomyelinating neuropathy early onset hereditary neuropathies genotype-phenotype correlations

Keyword (fr)

Amyotrophie de Charcot-Marie-Tooth Congénital Génotype Neuropathie Névrite hypertrophique de Dejerine-Sottas Pathologie du système nerveux Phénotype Maladie dégénérative Maladie héréditaire Pathologie de la moelle épinière Pathologie du système nerveux central Pathologie du système nerveux périphérique Pathologie neuromusculaire

Keyword (en)

Charcot-Marie-Tooth disease Congenital Genotype Neuropathy Dejerine-Sottas neuropathy Nervous system diseases Phenotype Degenerative disease Genetic disease Spinal cord disease Central nervous system disease Peripheral nerve disease Neuromuscular diseases

Keyword (es)

Amiotrofía Charcot-Marie-Tooth Congénito Genotipo Neuropatía Neuritis hipertrófica Dejerine-Sottas Sistema nervioso patología Fenotipo Enfermedad degenerativa Enfermedad hereditaria Médula espinal patología Sistema nervosio central patología Nervio periférico patología Neuromuscular patología

Classification

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17A Nervous system (semeiology, syndromes) / 002B17A08 Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction

Discipline

Neurology

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

24550272

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS