hrp0086fc12.5 | Neuroendocrinology | ESPE2016

Abnormal Corticospinal Tract Decussation in Kallmann Syndrome due to ANOS1 (KAL1) Mutations: An Explanation of the Mirror Movements Frequently Observed in These Patients

Gonzalez-Briceno Laura , Sonnet Emmanuel , Guimiot Fabien , Laquerriere Annie , Kerlan Veronique , Salem Douraied Ben , Gunczler Peter , de Roux Nicolas

Background: Mirror movements (MM) are frequently associated to Kallmann syndrome (KS). They are mainly observed in patients with ANOS1 (KAL1) mutations. MM have never been reported in ANOS1 mutated females. A defect in the contralateral inhibition of the pyramidal tract has been proposed as the mechanism of MM in KS but never demonstrated.Objective and hypotheses: To investigate the molecular mechanism of a familial case of gonadotropic deficiency in whi...