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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