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Abstract #2679

Longitudinal metabolic and morphometric characterization of a knock-in mouse model of SpinoCerebellar Ataxia Type 7

Jean-Baptiste Pérot1, Anna Niewiadomska-Cimicka2,3,4, Emmanuel Brouillet1, Yvon Trottier2,3,4, and Julien Flament1
1Université Paris-Saclay, Commissariat à l’Energie Atomique et aux Energies Alternatives (CEA), Centre National de la Recherche Scientifique (CNRS), Molecular Imaging Research Center (MIRCen), Laboratoire des Maladies Neurodégénératives, Fontenay-aux-Roses, France, 2Université de Strasbourg, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France, 3Centre National de la Recherche Scientifique, Unité Mixte de Recherche 7104, Illkirch, France, 4Institut National de la Santé et de la Recherche Médicale U964, Illkirch, France


SpinoCerebellar Ataxia Type 7 (SCA7) is an autosomal dominant degenerative disease defined by neurodegeneration of the retina and cerebellum. While gene silencing therapeutic strategy is developing, there is a need of biomarkers for evaluation of their efficacy. Here we characterize a recent knock-in mouse model of SCA7 with in-vivo longitudinal MRI and MRS. SCA7140Q/5Q display a wide range of phenotypes, including morphological and metabolic alterations in key brain structures. Our longitudinal protocol allowed better understanding of the chronology of these alterations and offers pertinent biomarkers for evaluation of therapies using the SCA7140Q/5Q model.

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