Cerebral and cerebellar MRI volumes in Williams syndrome |
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| Institution: | 1. Neuropsychophysiology Lab, CIPsi, School of Psychology, University of Minho, Campus Gualtar, 4710-057 Braga, Portugal;2. Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Minho, Portugal;3. ICVS/3B''s—PT Government Associated Laboratory, Guimarães, Braga, Portugal;4. Clinical Academic Center, Braga, Portugal;5. Biomedical Research Center Network for Rare Diseases (CIBERER), University of Santiago of Compostela, Santiago de Compostela, Spain;6. Genetic Molecular Unit, Galician Public Foundation of Genomic Medicine, Galicia, Spain;7. Department of Neuroradiology, CHP—Hospital de Santo António, Porto, Portugal;8. Department of Counseling and Educational Psychology, Bouvé College of Health Sciences, Northeastern University, Boston, USA;1. Centre for Disability Research and Policy, University of Sydney, Sydney, NSW 2141, Australia;2. Public Health, Cornwall Council, NHS England, Peninsula House, Kingsmill Road, Saltash PL12 6LE, UK;1. Department of Experimental Medicine, Transcranial Magnetic Stimulation Laboratory McGill University Health Centre, Montréal, QC, Canada;2. Université Paris 6, ER10UPMC Neurophysiologie Respiratoire Expérimentale et Clinique, Paris, France;3. Assistance Publique – Hôpitaux de Paris, Département d’Anesthésie Réanimation, Groupe Hospitalier Pitié-Salpêtrière, Paris, France;4. Department of Neurology, Montreal Neurological Institute, McGill University Health Centre, Montréal, QC, Canada;5. Service de Neurophysiologie Clinique, Hôpital Roger Salengro, Lille, France;6. McConnell Brain Imaging Center, Montreal Neurological Institute, McGill University Health Centre, Montréal, QC, Canada;7. Centre de NeuroImagerie de Recherche – CENIR, Centre de Recherche de l‘Institut du Cerveau et de la Moelle épiniere, Université Pierre et Marie Curie-Paris 6 UMR-S975, Inserm U975, CNRS UMR7225, Paris, France;8. Assistance Publique – Hôpitaux de Paris, Service de Neurochirurgie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France;9. Assistance Publique – Hôpitaux de Paris, Service de Pneumologie et Réanimation Médicale, Groupe Hospitalier Pitié-Salpêtrière, Paris, France;1. Radiology Department, Hospital Prof. Dr. Fernando Fonseca, Lisbon, Portugal;2. Radiology Department, Lincoln County Hospital, Lincoln, United Kingdom;3. Radiology Department, The Federal University of Rio de Janeiro, Rio de Janeiro, Brazil;4. Radiology Department, The Federal University of Rio Grande do Sul, Porto Alegre, Brazil;5. Radiology Department, Liverpool Heart and Chest Hospital, Liverpool, United Kingdom |
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| Abstract: | Individuals with Williams syndrome (WS) present a set of cognitive, affective and motor symptoms that resemble those of patients with lesions to the cerebellum. Although there is some evidence for overall structural alterations in this brain region in WS, explorations on cerebellar white matter and cerebellar cortex volumes remain rather neglected. We aimed to compare absolute and relative cerebellar volumes, as well as patterns of white matter to cortex volumes in this brain region, between a group of individuals with WS and a group of healthy controls. T1-weighted magnetic resonance images were acquired in 17 individuals with WS and in 15 typically developing individuals. Our results showed that even though individuals from the clinical group had significantly smaller cerebrums (and cerebellums), cerebellar volumes relative to intracranial volumes were significantly enlarged. In addition, while gray matter was relatively spared and white matter disproportionately reduced in the cerebrum in WS, relative cerebellar cortex and white matter volumes were preserved. These findings support the hypothesis that volume alterations in the cerebellum are associated with the cognitive, affective and motor profiles in WS. |
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| Keywords: | Cerebellum Williams syndrome MRI |
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