Francisco Grandas1,2, Manuel Desco3,1,4,5, Francisco J Navas-Sánchez6,7, Luis Marcos-Vidal3,1,4, Daniel Martín de Blas3,1,4, Alberto Fernández-Pena3,1,4, Yasser Alemán-Gómez8,9,10, Juan A Guzmán-de-Villoria3,1,11, Julia Romero1,11, Irene Catalina1,2, Laura Lillo12, José L Muñoz-Blanco1,2, Andrés Ordoñez-Ugalde13,14,15, Beatriz Quintáns13,16,17, María-Jesús Sobrido13,18, Susanna Carmona3,1. 1. Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain. 2. Servicio de Neurología, Hospital General Universitario Gregorio Marañón, Madrid, Spain. 3. Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Dr Esquerdo 46, 28007, Madrid, Spain. 4. Departamento de Bioingeniería E Ingeniería Aeroespacial, Universidad Carlos III de Madrid, Madrid, Spain. 5. Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain. 6. Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Dr Esquerdo 46, 28007, Madrid, Spain. jnavas@hggm.es. 7. Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain. jnavas@hggm.es. 8. Department of Psychiatry, Centre Hospitalier Universitaire Vaudois, Prilly, Switzerland. 9. Department of Radiology, Centre Hospitalier Universitaire Vaudois (CHUV) and University of Lausanne (UNIL), Lausanne, Switzerland. 10. Medical Image Analysis Laboratory (MIAL), Centre d'Imagerie BioMédicale (CIBM), Lausanne, Switzerland. 11. Servicio de Radiodiagnóstico, Hospital General Universitario Gregorio Marañón, Madrid, Spain. 12. Servicio de Neurología, Hospital Ruber Internacional, Madrid, Spain. 13. Instituto de Investigación Sanitaria, Hospital Clínico Universitario, Santiago de Compostela, Spain. 14. Laboratorio Biomolecular, Cuenca, Ecuador. 15. Unidad de Genética y Molecular, Hospital de Especialidades José Carrasco Arteaga, Cuenca, Ecuador. 16. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER-U711), Madrid, Spain. 17. Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain. 18. Instituto de Investigación Biomédica, Hospital Clínico Universitario de A Coruña, SERGAS, A Coruña, Spain.
Abstract
BACKGROUND: SPG4 is a subtype of hereditary spastic paraplegia (HSP), an upper motor neuron disorder characterized by axonal degeneration of the corticospinal tracts and the fasciculus gracilis. The few neuroimaging studies that have focused on the spinal cord in HSP are based mainly on the analysis of structural characteristics. METHODS: We assessed diffusion-related characteristics of the spinal cord using diffusion tensor imaging (DTI), as well as structural and shape-related properties in 12 SPG4 patients and 14 controls. We used linear mixed effects models up to T3 in order to analyze the global effects of 'group' and 'clinical data' on structural and diffusion data. For DTI, we carried out a region of interest (ROI) analysis in native space for the whole spinal cord, the anterior and lateral funiculi, and the dorsal columns. We also performed a voxelwise analysis of the spinal cord to study local diffusion-related changes. RESULTS: A reduced cross-sectional area was observed in the cervical region of SPG4 patients, with significant anteroposterior flattening. DTI analyses revealed significantly decreased fractional anisotropy (FA) and increased radial diffusivity at all the cervical and thoracic levels, particularly in the lateral funiculi and dorsal columns. The FA changes in SPG4 patients were significantly related to disease severity, measured as the Spastic Paraplegia Rating Scale score. CONCLUSIONS: Our results in SPG4 indicate tract-specific axonal damage at the level of the cervical and thoracic spinal cord. This finding is correlated with the degree of motor disability.
BACKGROUND: SPG4 is a subtype of hereditary spastic paraplegia (HSP), an upper motor neuron disorder characterized by axonal degeneration of the corticospinal tracts and the fasciculus gracilis. The few neuroimaging studies that have focused on the spinal cord in HSP are based mainly on the analysis of structural characteristics. METHODS: We assessed diffusion-related characteristics of the spinal cord using diffusion tensor imaging (DTI), as well as structural and shape-related properties in 12 SPG4 patients and 14 controls. We used linear mixed effects models up to T3 in order to analyze the global effects of 'group' and 'clinical data' on structural and diffusion data. For DTI, we carried out a region of interest (ROI) analysis in native space for the whole spinal cord, the anterior and lateral funiculi, and the dorsal columns. We also performed a voxelwise analysis of the spinal cord to study local diffusion-related changes. RESULTS: A reduced cross-sectional area was observed in the cervical region of SPG4 patients, with significant anteroposterior flattening. DTI analyses revealed significantly decreased fractional anisotropy (FA) and increased radial diffusivity at all the cervical and thoracic levels, particularly in the lateral funiculi and dorsal columns. The FA changes in SPG4 patients were significantly related to disease severity, measured as the Spastic Paraplegia Rating Scale score. CONCLUSIONS: Our results in SPG4 indicate tract-specific axonal damage at the level of the cervical and thoracic spinal cord. This finding is correlated with the degree of motor disability.
Authors: Francisco Grandas; Manuel Desco; Francisco J Navas-Sánchez; Alberto Fernández-Pena; Daniel Martín de Blas; Yasser Alemán-Gómez; Luís Marcos-Vidal; Juan A Guzmán-de-Villoria; Pilar Fernández-García; Julia Romero; Irene Catalina; Laura Lillo; José L Muñoz-Blanco; Andrés Ordoñez-Ugalde; Beatriz Quintáns; Julio Pardo; María-Jesús Sobrido; Susanna Carmona Journal: J Neurol Date: 2021-01-28 Impact factor: 4.849
Authors: Thiago J R Rezende; Milena de Albuquerque; Gustavo M Lamas; Alberto R M Martinez; Brunno M Campos; Raphael F Casseb; Cynthia B Silva; Lucas M T Branco; Anelyssa D'Abreu; Iscia Lopes-Cendes; Fernando Cendes; Marcondes C França Journal: PLoS One Date: 2015-02-06 Impact factor: 3.240
Authors: Domenico Montanaro; M Vavla; F Frijia; G Aghakhanyan; A Baratto; A Coi; C Stefan; G Girardi; G Paparella; S De Cori; P Totaro; F Lombardo; G Piccoli; Andrea Martinuzzi Journal: Front Neurosci Date: 2020-06-04 Impact factor: 4.677