Emma M Coppen1, Milou Jacobs2, Annette A van den Berg-Huysmans3, Jeroen van der Grond4, Raymund A C Roos5. 1. Department of Neurology, Leiden University Medical Center, PO BOX 9600, 2300 RC Leiden, The Netherlands. Electronic address: e.m.coppen@lumc.nl. 2. Department of Neurology, Leiden University Medical Center, PO BOX 9600, 2300 RC Leiden, The Netherlands. Electronic address: m.jacobs@lumc.nl. 3. Department of Radiology, Leiden University Medical Center, PO BOX 9600, 2300 RC Leiden, The Netherlands. Electronic address: a.a.van_den_berg-huysmans@lumc.nl. 4. Department of Radiology, Leiden University Medical Center, PO BOX 9600, 2300 RC Leiden, The Netherlands. Electronic address: j.van_der_grond@lumc.nl. 5. Department of Neurology, Leiden University Medical Center, PO BOX 9600, 2300 RC Leiden, The Netherlands. Electronic address: r.a.c.roos@lumc.nl.
Abstract
BACKGROUND: Motor disturbances are clinical hallmarks of Huntington's disease (HD) and involve chorea, dystonia, hypokinesia and visuomotor dysfunction. Investigating the association between specific motor signs and different regional volumes is important to understand the heterogeneity of HD. OBJECTIVE: To investigate the motor phenotype of HD and associations with subcortical and cortical grey matter volume loss. METHODS: Structural T1-weighted MRI scans of 79 HD patients and 30 healthy controls were used to calculate volumes of seven subcortical structures including the nucleus accumbens, hippocampus, thalamus, caudate nucleus, putamen, pallidum and amygdala. Multiple linear regression analyses, corrected for age, gender, CAG, MRI scan protocol and normalized brain volume, were performed to assess the relationship between subcortical volumes and different motor subdomains (i.e. eye movements, chorea, dystonia, hypokinesia/rigidity and gait/balance). Voxel-based morphometry analysis was used to investigate the relationship between cortical volume changes and motor signs. RESULTS: Subcortical volume loss of the accumbens nucleus, caudate nucleus, putamen, and pallidum were associated with higher chorea scores. No other subcortical region was significantly associated with motor symptoms after correction for multiple comparisons. Voxel-based cortical grey matter volume reductions in occipital regions were related with an increase in eye movement scores. CONCLUSION: In HD, chorea is mainly associated with subcortical volume loss, while eye movements are more related to cortical volume loss. Both subcortical and cortical degeneration has an impact on motor impairment in HD. This implies that there is a widespread contribution of different brain regions resulting in the clinical motor presentation seen in HD patients.
BACKGROUND: Motor disturbances are clinical hallmarks of Huntington's disease (HD) and involve chorea, dystonia, hypokinesia and visuomotor dysfunction. Investigating the association between specific motor signs and different regional volumes is important to understand the heterogeneity of HD. OBJECTIVE: To investigate the motor phenotype of HD and associations with subcortical and cortical grey matter volume loss. METHODS: Structural T1-weighted MRI scans of 79 HDpatients and 30 healthy controls were used to calculate volumes of seven subcortical structures including the nucleus accumbens, hippocampus, thalamus, caudate nucleus, putamen, pallidum and amygdala. Multiple linear regression analyses, corrected for age, gender, CAG, MRI scan protocol and normalized brain volume, were performed to assess the relationship between subcortical volumes and different motor subdomains (i.e. eye movements, chorea, dystonia, hypokinesia/rigidity and gait/balance). Voxel-based morphometry analysis was used to investigate the relationship between cortical volume changes and motor signs. RESULTS: Subcortical volume loss of the accumbens nucleus, caudate nucleus, putamen, and pallidum were associated with higher chorea scores. No other subcortical region was significantly associated with motor symptoms after correction for multiple comparisons. Voxel-based cortical grey matter volume reductions in occipital regions were related with an increase in eye movement scores. CONCLUSION: In HD, chorea is mainly associated with subcortical volume loss, while eye movements are more related to cortical volume loss. Both subcortical and cortical degeneration has an impact on motor impairment in HD. This implies that there is a widespread contribution of different brain regions resulting in the clinical motor presentation seen in HDpatients.
Authors: Cristine de Paula Nascimento-Castro; Elisa C Winkelmann-Duarte; Gianni Mancini; Priscilla Gomes Welter; Evelini Plácido; Marcelo Farina; Joana Gil-Mohapel; Ana Lúcia S Rodrigues; Andreza Fabro de Bem; Patricia S Brocardo Journal: Biomedicines Date: 2022-06-17
Authors: Maria Del C Valdés Hernández; Janna Abu-Hussain; Xinyi Qiu; Josef Priller; Mario Parra Rodríguez; Mariana Pino; Sandra Báez; Agustín Ibáñez Journal: Brain Behav Date: 2019-07-05 Impact factor: 2.708
Authors: Richard Erasto Sungura; John Martin Spitsbergen; Emmanuel Abraham Mpolya; Elingarami Sauli; John-Mary Vianney Journal: Pan Afr Med J Date: 2020-05-21
Authors: David G Anderson; Mark Haagensen; Aline Ferreira-Correia; Ronald Pierson; Jonathan Carr; Amanda Krause; Russell L Margolis Journal: Neuroimage Clin Date: 2019-01-07 Impact factor: 4.881