P 44 Brisk jerk reflexes in a CMT case – novel heterozygous variant c.785T>C; p.Leu262Pro in KIF5A explaining the mixed phenotype

Charcot-Marie-Tooth (CMT) disease is a progressively disabling syndrome phenotypically comprising distal muscle weakness and atrophy, foot deformities, sensory loss, and reduced or absent tendon reflexes. In spastic paraplegia (SPG), a hereditary disorder affecting the upper motor neuron only, pareses are spastic, and deep tendon reflexes increased. Mixed forms between both diseases have been previously described (Liu et al., 2014). By multiple gene panel based analysis using next-generation-sequencing (NGS), we herein identified the novel variant c.785T>C; p.Leu262Pro in KIF5A as the putative cause of a mixed CMT and SPG phenotype.

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