English   español  
Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/183409
logo share SHARE logo core CORE   Add this article to your Mendeley library MendeleyBASE

Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL
Exportar a otros formatos:


Congenital hypomyelinating neuropathy due to a novel MPZ mutation

AuthorsSevilla, Teresa; Lupo, Vincenzo ; Sivera, Rafael; Marco-Marín, Clara ; Martínez-Rubio, Dolores ; Rivas, Eloy; Hernández, Arturo; Palau Martínez, Francesc ; Espinós, Carmen
KeywordsCongenital hypomyelinating neuropathy (CHN)
Déjérine-Sottas syndrome (DSS)
Charcot-Marie-Tooth (CMT)
MPZ gene
Nerve biopsy
Issue DateDec-2011
CitationJournal of the Peripheral Nervous System 16(4):347-52 (2011)
AbstractCongenital hypomyelinating neuropathy (CHN) is a severe inherited neuropathy with neonatal or early infancy onset, reduced nerve conduction velocity, and pathological evidence of hypomyelination. We describe a case of CHN that presented with neonatal hypotonia and a progressive downhill clinical course, developing cranial nerve dysfunction, and respiratory failure. The nerve conduction velocities were severely slowed and sural nerve biopsy revealed non-myelinated and poorly myelinated axons, with no typical onion bulbs. The mutational screening showed that our proband harbored a novel missense mutation, p.S121F, in the MPZ gene. In silico analyses and molecular modeling predicted that the replacement of a serine by a phenylalanine is a non-tolerated change and may affect the folding and the stability of the protein. Subcellular location studies were performed and revealed that the mutant protein loses its correct location on the cell membrane surface and is mainly expressed in the cytosol, reducing its adhesive properties. This case illustrates the clinical heterogeneity that exists in neuropathies associated with MPZ mutations and highlights that in patients with mild hypotonia in the first months that develop a very severe demyelinating neuropathy, the MPZ gene must be taken into account.
Description6 páginas, 1 figura, 2 tablas
Publisher version (URL)http://dx.doi.org/10.1111/j.1529-8027.2011.00369.x
Appears in Collections:(IBV) Artículos
Files in This Item:
File Description SizeFormat 
2011 J Peripher Nerv Syst 16-347 vers aut.pdf46,62 kBAdobe PDFThumbnail
Show full item record
Review this work

Related articles:

WARNING: Items in Digital.CSIC are protected by copyright, with all rights reserved, unless otherwise indicated.