Julia Martínez Fernández

Estimación de la entrada de nutrientes de origen agrícola en el Mar Menor mediante un modelo dinámico

El presente trabajo ha sido parcialmente financiado por la Fundacion Caja de Madrid, a traves de una beca en el area de Proteccion del Medio Ambiente.

P5.22 Median nerve F-wave analysis in patients with carpal tunnel syndrome

Results: The proband and his two sisters displayed cerebellat ataxia, more axial than appendicular, nystagmus, hypermetric saccades, dysarthric speech, tortuosity of conjunctival vessels and in some of them intellectual disability, inspiratory stridor and foot deformity. Brain imaging displayed cerebellar atrophy. ENMG presented normal SNAP (sensitive nerve action potential) and fasciculations at needle EMG. Genetically procedure exluded mutation of FRDA (frataxin) and ATM (ataxia telangiectasia mutated) genes and confirmed new homozygous mutation in ANO10 gene. ANO10 gene coded for a putative calciumacctivated chloride channel, with possible influence on nerve excitability. Unfortunatelly, the basic function of ANO10 is still poorely understood. At the moment, three cerebellar ataxia-families are presented with ANO10 mutation (Vermeer S, 2010) and most of them expressed EMG signs of motor neuron involvement. Conclusion: We presented EMG motor neuron involvement in affected siblings with AR-cerebellar ataxia and mutation in ANO10 gene.