Cerebellar dysfunction in adults with prader Willi syndrome

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• dc.contributor.author Blanco Hinojo, Laura, 1981-
• dc.contributor.author Casamitjana, Laia
• dc.contributor.author Pujol Martí, Jesús, 1981-
• dc.contributor.author Martínez-Vilavella, Gerard
• dc.contributor.author Esteba-Castillo, Susanna
• dc.contributor.author Giménez Palop, Olga
• dc.contributor.author Freijo, Valentín
• dc.contributor.author Deus, Joan
• dc.contributor.author Caixàs, Assumpta
• dc.date.accessioned 2022-09-07T06:38:45Z
• dc.date.available 2022-09-07T06:38:45Z
• dc.date.issued 2021
• dc.description.abstract Severe hypotonia during infancy is a hallmark feature of Prader Willi syndrome (PWS). Despite its transient expression, moto development is delayed and deficiencies in motor coordination are present at older ages, with no clear pathophysiological mechanism yet identified. The diverse motor coordination symptoms present in adult PWS patients could be, in part, the result of a common alteration(s) in basic motor control systems. We aimed to examine the motor system in PWS using functional MRI (fMRI) during motor challenge. Twenty-three adults with PWS and 22 matched healthy subjects participated in the study. fMRI testing involved three hand motor tasks of different complexity. Additional behavioral measurements of motor function were obtained by evaluating hand grip strength, functional mobility, and balance. Whole brain activation maps were compared between groups and correlated with behavioral measurements. Performance of the motor tasks in PWS engaged the neural elements typically involved in motor processing. While our data showed no group differences in the simplest task, increasing task demands evoked significantly weaker activation in patients in the cerebellum. Significant interaction between group and correlation pattern with measures of motor function were also observed. Our study provides novel insights into the neural substrates of motor control in PWS by demonstrating reduced cerebellar activation during movement coordination.
• dc.format.mimetype application/pdf
• dc.identifier.citation Blanco-Hinojo L, Casamitjana L, Pujol J, Martínez-Vilavella G, Esteba-Castillo S, Giménez-Palop O, et al. Cerebellar dysfunction in adults with prader Willi syndrome. J Clin Med. 2021 Jul 28; 10(15): 3320. DOI: 10.3390/jcm10153320.
• dc.identifier.doi http://dx.doi.org/10.3390/jcm10153320
• dc.identifier.issn 2077-0383
• dc.identifier.uri http://hdl.handle.net/10230/54013
• dc.language.iso eng
• dc.publisher MDPI
• dc.rights Copyright © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by/4.0/
• dc.subject.keyword Prader Willi syndrome
• dc.subject.keyword Cerebellum
• dc.subject.keyword fMRI
• dc.subject.keyword Motor system
• dc.title Cerebellar dysfunction in adults with prader Willi syndrome
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion