title: Cerebral and cerebellar MRI volumes in Williams syndrome.
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.
authors: Neuropsychophysiology Lab, CIPsi, School of Psychology, University of Minho, Campus Gualtar, 4710-057 Braga, Portugal. Electronic address: aosorio@psi.uminho.pt.
authors: Ana
authors: A
authors: Osório
authors: Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Minho, Portugal; ICVS/3B's-PT Government Associated Laboratory, Guimarães, Braga, Portugal; Clinical Academic Center, Braga, Portugal.
authors: José Miguel
authors: JM
authors: Soares
authors: Biomedical Research Center Network for Rare Diseases (CIBERER), University of Santiago of Compostela, Santiago de Compostela, Spain; Genetic Molecular Unit, Galician Public Foundation of Genomic Medicine, Galicia, Spain.
authors: Montse Fernández
authors: MF
authors: Prieto
authors: Department of Neuroradiology, CHP-Hospital de Santo António, Porto, Portugal.
authors: Cristiana
authors: C
authors: Vasconcelos
authors: Neuropsychophysiology Lab, CIPsi, School of Psychology, University of Minho, Campus Gualtar, 4710-057 Braga, Portugal.
authors: Catarina
authors: C
authors: Fernandes
authors: Neuropsychophysiology Lab, CIPsi, School of Psychology, University of Minho, Campus Gualtar, 4710-057 Braga, Portugal.
authors: Sónia
authors: S
authors: Sousa
authors: Biomedical Research Center Network for Rare Diseases (CIBERER), University of Santiago of Compostela, Santiago de Compostela, Spain; Genetic Molecular Unit, Galician Public Foundation of Genomic Medicine, Galicia, Spain.
authors: Angel
authors: A
authors: Carracedo
authors: Neuropsychophysiology Lab, CIPsi, School of Psychology, University of Minho, Campus Gualtar, 4710-057 Braga, Portugal; Department of Counseling and Educational Psychology, Bouvé College of Health Sciences, Northeastern University, Boston, USA.
authors: Oscar F
authors: OF
authors: Gonçalves
authors: Neuropsychophysiology Lab, CIPsi, School of Psychology, University of Minho, Campus Gualtar, 4710-057 Braga, Portugal.
authors: Adriana
authors: A
authors: Sampaio
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002525:Cerebellar Cortex / Q000473:pathology; D002531:Cerebellum / Q000473:pathology*; D002540:Cerebral Cortex / Q000473:pathology; D054022:Cerebrum / Q000473:pathology*; D002648:Child; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009413:Nerve Fibers, Myelinated / Q000473:pathology*; D036421:Nerve Fibers, Unmyelinated / Q000473:pathology*; D009929:Organ Size; D018980:Williams Syndrome / Q000175:diagnosis* / Q000473:pathology; D055815:Young Adult
keywords: Cerebellum; MRI; Williams syndrome