Sheeba Anteraper¹, Ying Zhang², Xavier Guell³, Michal Povazan⁴, Guita Banan⁵, Romain Valabregue⁶, Philip Ehses⁷, Jennifer Faber⁷, James M Joers², Chiadi U Onyike⁴, Peter B Barker⁴, Jeremy D Schmahmann³, Eva-Maria Ratai³, S H Subramony⁵, Thomas H Mareci⁵, Khalaf O Bushara², Alexandra Durr⁶, Thomas Klockgether⁷, Tetsuo Ashizawa⁸, Christophe Lenglet², and Gülin Öz^2
1Carle Foundation Hospital, Champaign, IL, United States, ²University of Minnesota, Minneapolis, MN, United States, ³Massachusetts General Hospital, Boston, MA, United States, ⁴Johns Hopkins University, Baltimore, MD, United States, ⁵University of Florida, Gainesville, FL, United States, ⁶Sorbonne University, Paris, France, ⁷German Center for Neurodegenerative Diseases, Bonn, Germany, ⁸The Houston Methodist Research Institute, Houston, TX, United States

Spinocerebellar Ataxias (SCAs) are a group of rare, autosomal dominant diseases that result in progressive degeneration of the cerebellum. Of these, SCA1 is the fastest progressing. SCA3, the most prevalent SCA worldwide, is relentlessly progressive, disabling, and eventually fatal with no efficacious treatments other than supportive therapy. There is a strong need to improve our mechanistic understanding of the changes in the cerebello-cerebral circuitry prior to disease manifestation so that novel therapeutic strategies can be developed. Analyzing high quality magnetic resonance imaging data from the NIH-funded project, “Clinical Trial Readiness for SCA1 and SCA3 (READISCA),” will guide such efforts. 

Maria Eugenia Caligiuri¹, Patrizia Vizza², Pierangelo Veltri³, Francesco Cicone³, Paolo Barberio³, Giuseppe Lucio Cascini³, Eugenia Scaricamazza⁴, Sabrina Maffi⁴, Simone Migliore⁴, Ferdinando Squitieri^4,5, and Umberto Sabatini^3
1Neuroscience Research Center, University "Magna Graecia", Catanzaro, Italy, ²Mater Domini University Hospital, Catanzaro, Italy, ³University "Magna Graecia", Catanzaro, Italy, ⁴IRCCS Casa Sollievo della Sofferenza/CSS-Mendel, San Giovanni Rotondo/Rome, Italy, ⁵Italian League fo Research on Huntington (LIRH Foundation), Rome, Italy

Hybrid PET-MRI is an emerging technique that allows multimodal evaluation of brain structure and function. This study evaluates longitudinal PET-MRI in one patient with stage-2 joHD, to assess changes related to disease progression. This approach might be useful to test the efficacy of disease-modifying drugs. 

Ana-Maria Oros-Peusquens¹, Ravi Dadsena¹, Imis Dogan^2,3, Kathrin Reetz^2,3, and N. Jon Shah^1,2,4,5
1Institute of Neuroscience and Medicine INM-4, Research Centre Juelich, Juelich, Germany, ²Department of Neurology, RWTH Aachen University, Aachen, Germany, ³JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging, Research Centre Juelich, Juelich, Germany, ⁴Faculty of Medicine, JARA, RWTH Aachen University, Aachen, Germany, ⁵Institute of Neuroscience and Medicine 11, INM-11, JARA, Research Centre Juelich, Juelich, Germany

QSM and R2* are quantitative MRI parameters sensitive to iron and myelin content, and their correlation provides further insight into the chemical form of iron. These are the tissue properties which are most affected by Huntington’s disease, besides volumetric changes. We investigate by multiparametric qMRI changes induced by HD in 18 gene-carriers by comparison to matched healthy controls. These qMRI changes are significant in several cortical and subcortical regions and correlate with clinical measures of HD, including CAG mutation length. Although the interpretation of correlations between parameters is not unambiguous, insights into tissue chemical and micro-structure are enabled.

Giulia Maria Mattia¹, Edouard Villain^1,2, Olivier Rascol³, Wassilios G. Meissner^4,5,6, Xavier Franceries⁷, and Patrice Péran^1
1ToNIC, Toulouse NeuroImaging Center, Université de Toulouse, Inserm, UPS, Toulouse, France, ²LAAS CNRS, Université de Toulouse, CNRS, INSA, UPS, Toulouse, France, ³French Reference Center for MSA, Department of Neurosciences and Clinical Pharmacology Clinical Investigation Center CIC1436, NS-Park/FCRIN Network, ToNIC, Toulouse NeuroImaging Center University Hospital of Toulouse, Inserm, Université de Toulouse 3, Toulouse, France, ⁴French Reference Center for MSA, Department of Neurology for Neurodegenerative Diseases, University Hospital Bordeaux, Bordeaux, France, ⁵Univ. Bordeaux, CNRS, IMN, UMR 5293, F-33000 Bordeaux, France, ⁶Dept. Medicine, University of Otago, Christchurch and New Zealand Brain Research Institute, Christchurch, New Zealand, ⁷CRCT, Centre de Recherche en Cancerologie de Toulouse, Inserm, Toulouse, France

As a rare neurodegenerative disorder, multiple system atrophy (MSA) can be challenging to analyse using a deep learning approach given the limited sample size. A method is submitted to produce cluster-based simulated brain MR parametric maps from healthy controls, using regional intensity distribution belonging to a set of MSA patients. This enabled to train a 3D CNN only with the simulated set. Testing on the MSA data set, the accuracy obtained was comparable to the state-of-the-art. This approach allows to deal with small samples of data in deep learning, while exploiting a-priori knowledge of the disease.
 

Christian Urzi^1,2,3, Damian Hertig^1,2, Christoph Meyer^1,2,3, Jean-Marc Nuoffer^2,4, and Peter Vermathen^1
1Magnetic Resonance Methodology, Institute of Diagnostic and Interventional Neuroradiology, University of Bern, Bern, Switzerland, ²Institute of Clinical Chemistry, University Hospital Bern, Bern, Switzerland, ³Graduate School for Cellular and Biomedical Sciences, University of Bern, Bern, Switzerland, ⁴Department of Pediatric Endocrinology, Diabetology and Metabolism, University Children’s Hospital of Bern, Bern, Switzerland

In this study was shown the possibility to perform compartment-specific metabolic investigations of living fibroblasts in real-time using a bioreactor system within an NMR spectrometer. Cell volume and the ratio cells to extracellular medium within the sensitive region of NMR coil were evaluated for quantification purposes. The needed sensitivity to detect metabolite changes in the extracellular footprint at different flow rates was shown. The capability of diffusion technique to distinguish between compartment-specific contributions was revealed, and to detect changes in compartment-specific metabolite pools under standard or selective culture conditions, and upon inhibitor challenges.

Julien Songeon¹, Thomas Agius², Antoine Klauser^1,3, Grégoire Longchamp⁴, Raphael Ruttimann⁴, Jean-Marc Corpataux², Alban Longchamp², and François Lazeyras^1,3
1Department of Radiology and Medical Informatics, University of Geneva, Geneva, Switzerland, ²Department of Vascular Surgery, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland, ³Center for Biomedical Imaging (CIBM), Geneva, Switzerland, ⁴Department of Surgery, Geneva University Hospitals and Medical School, Geneva, Switzerland

Improved preservation strategies for the storage of graft collected after circulatory death could increase the number of kidneys available and improve patient survival. Warm (22 and 37°C) ex-vivo perfusion has emerged as a feasible strategy for organ recovery, but the underlying mechanism remains elusive. Using phosphorus magnetic resonance spectroscopic imaging (³¹P-MRSI) and histological scoring, we evaluated kidney viability and adenosine triphosphate (ATP) production during sub-normothermic ex-vivo kidney perfusion (SNOP) versus hypothermic machine perfusion (HMP) in a porcine kidney autotransplantation model.

Sergey Magnitsky¹, Sonal Sharma¹, and Marni Falk^1
1CHOP, Philadelphia, PA, United States

We created a high-resolution MR imaging atlas of wt. and three mutants (OPA1, FBXL4 and SURF1) of Zebrafish models of human mitochondria disorders. Three age groups of animals were analyzed and organ volume was measured. Image analysis revealed that the brain and spinal cord were significantly smaller in OPA1 mutant than in wt. animals. This study showed that the MRI atlas is useful for the characterization of Zebrafish models. We demonstrated that high-resolution 3D MRI atlas provides comparable with the histology resolution, allows to observe and evaluate the entire animal, and requires less effort to create a histological atlas.

Jean-Baptiste Pérot¹, Anna Niewiadomska-Cimicka^2,3,4, Emmanuel Brouillet¹, Yvon Trottier^2,3,4, and Julien Flament^1
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. SCA7^140Q/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 SCA7^140Q/5Q model.

Teddy Salan¹, Sulaiman Sheriff¹, Sameer Vyas², Deepika Aggarwal², Paramjeet Singh², and Varan Govind^1
1Radiology, University of Miami, Miami, FL, United States, ²Post Graduate Institute of Medical Education & Research, Chandigarh, India

Magnetic resonance spectroscopic imaging (MRSI) based studies investigating brain metabolite alterations due to HIV infection generally acquired MR spectra from single or multi-voxels covering regions related to HIV. In this study, we acquire whole-brain MRSI data to map regional metabolite variations in the entire brain, determine regions mostly affected by HIV clade-C infection, and identify the mechanism by which HIV damages the brain. Results show widespread increases in myo-inositol, glutamate/glutamine, choline, and creatine, and decreases in N-acetylaspartate, indicating neuronal dysfunction and astrogliosis in the white matter, as well as disruptions in synaptic transmission, neurotoxicity and inflammation throughout the brain.

Claire Louise MacIver^1,2, Derek Jones¹, Chantal Tax^1,3, and Kathryn Peall^2
1Cardiff University Brain Imaging Centre, Cardiff University, Cardiff, United Kingdom, ²Neuroscience and Mental Health Research Institute, Cardiff University, Cardiff, United Kingdom, ³Image Sciences Institute, University Medical Centre Utrecht, Utrecht, Netherlands

Dystonia is a hyperkinetic movement disorder involving repetitive or sustained muscle contractions. Its pathophysiology is poorly understood, limiting therapeutic advancement. A systematic literature review on diffusion MRI in dystonia was performed to gain insight into microstructural white matter changes that may contribute to pathology. Of 403 identified records, 40 met the criteria for inclusion. The most consistent diffusion abnormalities for both genetic and idiopathic dystonia forms were lower FA values or reduced number of tractography streamlines in regions connecting brainstem, cerebellum, basal ganglia and sensorimotor cortex, with some genotype and phenotype specific differences identified.