Expressing hNF-LE397K results in abnormal gaiting in a transgenic model of CMT2E.
Genes Brain Behav
; 11(3): 360-5, 2012 Apr.
Article
en En
| MEDLINE
| ID: mdl-22288874
ABSTRACT
Charcot-Marie-Tooth disease (CMT) is the most commonly inherited peripheral neuropathy. CMT disease signs include distal limb neuropathy, abnormal gaiting, exacerbation of neuropathy, sensory defects and deafness. We generated a novel line of CMT2E mice expressing an hNF-L(E397K) transgene, which displayed muscle atrophy of the lower limbs without denervation, proximal reduction in large caliber axons and decreased nerve conduction velocity. In this study, we showed that hNF-L(E397K) mice developed abnormal gait of the hind limbs. The identification of severe gaiting defects in combination with previously observed muscle atrophy, reduced axon caliber and decreased nerve conduction velocity suggests that hNF-L(E397K) mice recapitulate many of clinical signs associated with CMT2E. Therefore, hNF-L(E397K) mice provide a context for potential therapeutic intervention.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedad de Charcot-Marie-Tooth
/
Proteínas de Neurofilamentos
/
Cojera Animal
Límite:
Animals
/
Humans
Idioma:
En
Revista:
Genes Brain Behav
Asunto de la revista:
CIENCIAS DO COMPORTAMENTO
/
GENETICA
Año:
2012
Tipo del documento:
Article
País de afiliación:
Estados Unidos