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Abstract #1897

Structural and metabolic measurements in Rett patients with MECP2 mutation

Laura Biagi 1 , Manuela Casarano 1 , Roberta Battini 1 , Tommaso Pizzorusso 2,3 , Giorgio Pini 4 , Danilo Scelfo 1,5 , Giovanni Cioni 1,6 , and Michela Tosetti 1

1 IRCCS Fondazione Stella Maris, Pisa, PI, Italy, 2 Institue of Neuroscience, National Research Council, Pisa, PI, Italy, 3 University of Florence, Firenze, FI, Italy, 4 Department of Child Neurology and Psychiatry, Versilia Hospital, Lido di Camaiore, LU, Italy, 5 Institute of Clinical Physiology, National Research Council, Pisa, PI, Italy, 6 University of Pisa, Pisa, PI, Italy

The principal aim of this study is to identify specific biomarkers of Rett syndrome (RTT) using neuroimaging techniques that could be used as index of disease progression. 14 patients with MECP2 mutations and 14 matched healthy controls participated in the study. We explored Voxel-Based-Morphometry (VBM) and Cerebral perfusion by using pCASL technique. Data showed global reductions of GM and WM volumes in RTT patients and the capability of a functional/metabolic parameter like CBF to identify different profiles in the groups of RTT subjects, differentiating epileptic patients from no-epileptic ones and finding different alterations in patients with different respiratory patterns.

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