Cerebellar Dysfunction in Adults with Prader Willi Syndrome

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 coordinat...

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Autores: Blanco-Hinojo, Laura, Casamitjana, Laia, Pujol, Jesus, Martínez-Vilavella, Gerard, Esteba Castillo, Susanna, Giménez-Palop, Olga, Freijo, Valentín, Deus, Joan, Caixàs, Assumpta
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2021
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:10256/28251
Acceso en línea:http://hdl.handle.net/10256/28251
Access Level:acceso abierto
Palabra clave:cerebellum
fMRI
motor system
Prader Willi syndrome
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spelling Cerebellar Dysfunction in Adults with Prader Willi SyndromeBlanco-Hinojo, LauraCasamitjana, LaiaPujol, JesusMartínez-Vilavella, GerardEsteba Castillo, SusannaGiménez-Palop, OlgaFreijo, ValentínDeus, JoanCaixàs, AssumptacerebellumfMRImotor systemPrader Willi syndromeSevere 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 coordinationThis project was supported by a grant from Fondo de Investigacion Sanitaria del Instituto Carlos III and Fondo Europeo de Desarrollo Regional (PI-18/00734) to A.CMdpi2021info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionpeer reviewedapplication/pdfhttp://hdl.handle.net/10256/28251http://hdl.handle.net/10256/28251Journal Of Clinical Medicine, 2021, vol. 10, núm. 15, p. 3320Articles publicats (IDIBGI)reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)Inglésinfo:eu-repo/semantics/altIdentifier/doi/10.3390/jcm10153320info:eu-repo/semantics/altIdentifier/issn/2077-0383info:eu-repo/semantics/altIdentifier/eissn/2077-0383Attribution 4.0 International (CC BY 4.0)http://creativecommons.org/licenses/by/4.0/deed.cainfo:eu-repo/semantics/openAccessoai:recercat.cat:10256/282512026-05-29T05:05:01Z
dc.title.none.fl_str_mv Cerebellar Dysfunction in Adults with Prader Willi Syndrome
title Cerebellar Dysfunction in Adults with Prader Willi Syndrome
spellingShingle Cerebellar Dysfunction in Adults with Prader Willi Syndrome
Blanco-Hinojo, Laura
cerebellum
fMRI
motor system
Prader Willi syndrome
title_short Cerebellar Dysfunction in Adults with Prader Willi Syndrome
title_full Cerebellar Dysfunction in Adults with Prader Willi Syndrome
title_fullStr Cerebellar Dysfunction in Adults with Prader Willi Syndrome
title_full_unstemmed Cerebellar Dysfunction in Adults with Prader Willi Syndrome
title_sort Cerebellar Dysfunction in Adults with Prader Willi Syndrome
dc.creator.none.fl_str_mv Blanco-Hinojo, Laura
Casamitjana, Laia
Pujol, Jesus
Martínez-Vilavella, Gerard
Esteba Castillo, Susanna
Giménez-Palop, Olga
Freijo, Valentín
Deus, Joan
Caixàs, Assumpta
author Blanco-Hinojo, Laura
author_facet Blanco-Hinojo, Laura
Casamitjana, Laia
Pujol, Jesus
Martínez-Vilavella, Gerard
Esteba Castillo, Susanna
Giménez-Palop, Olga
Freijo, Valentín
Deus, Joan
Caixàs, Assumpta
author_role author
author2 Casamitjana, Laia
Pujol, Jesus
Martínez-Vilavella, Gerard
Esteba Castillo, Susanna
Giménez-Palop, Olga
Freijo, Valentín
Deus, Joan
Caixàs, Assumpta
author2_role author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv cerebellum
fMRI
motor system
Prader Willi syndrome
topic cerebellum
fMRI
motor system
Prader Willi syndrome
description 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
publishDate 2021
dc.date.none.fl_str_mv 2021
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
peer reviewed
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10256/28251
http://hdl.handle.net/10256/28251
url http://hdl.handle.net/10256/28251
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.3390/jcm10153320
info:eu-repo/semantics/altIdentifier/issn/2077-0383
info:eu-repo/semantics/altIdentifier/eissn/2077-0383
dc.rights.none.fl_str_mv Attribution 4.0 International (CC BY 4.0)
http://creativecommons.org/licenses/by/4.0/deed.ca
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Attribution 4.0 International (CC BY 4.0)
http://creativecommons.org/licenses/by/4.0/deed.ca
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Mdpi
publisher.none.fl_str_mv Mdpi
dc.source.none.fl_str_mv Journal Of Clinical Medicine, 2021, vol. 10, núm. 15, p. 3320
Articles publicats (IDIBGI)
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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