Disease mechanisms in hereditary sensory and autonomic neuropathies

Autor: Nathalie Verpoorten, Peter De Jonghe, Vincent Timmerman

Publikováno v: Neurobiology of Disease, Vol 21, Iss 2, Pp 247-255 (2006)

Inherited peripheral neuropathies are common monogenically inherited diseases of the peripheral nervous system. In the most common variant, i.e., the hereditary motor and sensory neuropathies, both motor and sensory nerves are affected. In contrast,

Externí odkaz: https://doaj.org/article/4935c730e0084e87ae4b855c20b9ecea

Astrocytes regulate GluR2 expression in motor neurons and their vulnerability to excitotoxicity

Autor: Nicole Hersmus, Ilse Bockx, Geert Callewaert, Nathalie Verpoorten, Philip Van Damme, Peter Carmeliet, Vincent Timmerman, Kristien Verhoeven, Dora Kiraly, Wim Robberecht, Elke Bogaert, Ludo Van Den Bosch, Dries Braeken, Paul Herijgers, Wendy Scheveneels, Maarten Dewil

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America

Influx of Ca 2+ ions through α-amino-3-hydroxy-5-methylisoxazole-4-propionic acid (AMPA) receptors contributes to neuronal damage in stroke, epilepsy, and neurodegenerative disorders such as ALS. The Ca 2+ permeability of AMPA receptors is largely d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7120932235c002e75cae9cad166edeeb
https://doi.org/10.1073/pnas.0705046104

The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V

Autor: Veerle Van Gerwen, Vincent Timmerman, Klaus Wagner, Luciano Merlini, Christian Windpassinger, Christine Verellen, Albena Jordanova, Peter Van den Bergh, Ines Dierick, Michaela Auer-Grumbach, Nathalie Verpoorten, Lionel Van Maldergem, Els De Vriendt, Joy Irobi, Peter De Jonghe

Publikováno v: Brain

Silver syndrome is a rare autosomal dominant neurodegenerative disorder characterized by marked amyotrophy and weakness of small hand muscles and spasticity in the lower limbs. The locus for Silver syndrome (SPG17) was assigned to a 13 cM region on c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e5d903fcfbe019ecee37090c8ea6959
https://doi.org/10.1093/brain/awh232

Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy

Autor: Katrien Coen, Klaus Wagner, Els De Vriendt, Vincent Timmerman, Peter De Jonghe, Eric Schmedding, Michaela Auer-Grumbach, Kristien Verhoeven, Jennifer M. Kwon, An Jacobs, Nathalie Verpoorten, Veerle Van Gerwen, David R. FitzPatrick, Hans-Peter Hartung

Publikováno v: The American journal of human genetics
Verhoeven, K, De Jonghe, P, Coen, K, Verpoorten, N, Auer-Grumbach, M, Kwon, J M, FitzPatrick, D, Schmedding, E, De Vriendt, E, Jacobs, A, Van Gerwen, V, Wagner, K, Hartung, H-P & Timmerman, V 2003, ' Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy ', American Journal of Human Genetics, vol. 72, no. 3, pp. 722-7 . https://doi.org/10.1086/367847

Charcot-Marie-Tooth type 2B (CMT2B) is clinically characterized by marked distal muscle weakness and wasting and a high frequency of foot ulcers, infections, and amputations of the toes because of recurrent infections. CMT2B maps to chromosome 3q13-q

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d869d0349fbf712b0beebab0b3b4fcc2

Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II

Autor: Davide Pareyson, Vidmer Scaioli, Nathalie Verpoorten, Thomas R. Pieber, Nathalie Goemans, Kristl Claeys, Michaela Auer-Grumbach, Katrien Coen, Gunnar M. Buyse, Eva Nelis, P. De Jonghe, W. Salmhofer, Vincent Timmerman, Matilde Laura

Publikováno v: Neurology

Hereditary sensory and autonomic neuropathy type II (HSAN-II) is caused by recessive mutations in the HSN2 gene assigned to chromosome 12p13.33. The authors report three unrelated HSAN-II families with homozygous or compound heterozygous mutations re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b94b6b17c4c81b75102bd3402ec67a87
https://hdl.handle.net/10067/567770151162165141