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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8347444/ https://www.ncbi.nlm.nih.gov/pubmed/34362104 http://dx.doi.org/10.3390/jcm10153320 |
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author | Blanco-Hinojo, Laura Casamitjana, Laia Pujol, Jesus Martínez-Vilavella, Gerard Esteba-Castillo, Susanna Giménez-Palop, Olga Freijo, Valentín Deus, Joan Caixàs, Assumpta |
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_sort | Blanco-Hinojo, Laura |
collection | PubMed |
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. |
format | Online Article Text |
id | pubmed-8347444 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-83474442021-08-08 Cerebellar Dysfunction in Adults with Prader Willi Syndrome Blanco-Hinojo, Laura Casamitjana, Laia Pujol, Jesus Martínez-Vilavella, Gerard Esteba-Castillo, Susanna Giménez-Palop, Olga Freijo, Valentín Deus, Joan Caixàs, Assumpta J Clin Med Article 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. MDPI 2021-07-28 /pmc/articles/PMC8347444/ /pubmed/34362104 http://dx.doi.org/10.3390/jcm10153320 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/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/). |
spellingShingle | Article Blanco-Hinojo, Laura Casamitjana, Laia Pujol, Jesus Martínez-Vilavella, Gerard Esteba-Castillo, Susanna Giménez-Palop, Olga Freijo, Valentín Deus, Joan Caixàs, Assumpta Cerebellar Dysfunction in Adults with Prader Willi Syndrome |
title | 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_short | Cerebellar Dysfunction in Adults with Prader Willi Syndrome |
title_sort | cerebellar dysfunction in adults with prader willi syndrome |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8347444/ https://www.ncbi.nlm.nih.gov/pubmed/34362104 http://dx.doi.org/10.3390/jcm10153320 |
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