Cynthia Bonilha Da Silva

Longitudinal magnetic resonance imaging study shows progressive pyramidal and callosal damage in Friedreich's ataxia

Spinal cord and peripheral nerves are classically known to be damaged in Friedreichs ataxia, but the extent of cerebral involvement in the disease and its progression over time are not yet characterized. The aim of this study was to evaluate longitudinally cerebral damage in Friedreichs ataxia

Multimodal MRI-Based Study in Patients with SPG4 Mutations

Mutations in the SPG4 gene (SPG4-HSP) are the most frequent cause of hereditary spastic paraplegia, but the extent of the neurodegeneration related to the disease is not yet known. Therefore, our objective is to identify regions of the central nervous system damaged in patients with SPG4-HSP using a multi-modal neuroimaging approach. In addition, we aimed to identify possible clinical correlates of such damage. Eleven patients (mean age 46.0 ± 15.0 years, 8 men) with molecular confirmation of hereditary spastic paraplegia, and 23 matched healthy controls (mean age 51.4 ± 14.1years, 17 men) underwent MRI scans in a 3T scanner. We used 3D T1 images to perform volumetric measurements of the brain and spinal cord. We then performed tract-based spatial statistics and tractography analyses of diffusion tensor images to assess microstructural integrity of white matter tracts. Disease severity was quantified with the Spastic Paraplegia Rating Scale. Correlations were then carried out between MRI metrics and clinical data. Volumetric analyses did not identify macroscopic abnormalities in the brain of hereditary spastic paraplegia patients. In contrast, we found extensive fractional anisotropy reduction in the corticospinal tracts, cingulate gyri and splenium of the corpus callosum. Spinal cord morphometry identified atrophy without flattening in the group of patients with hereditary spastic paraplegia. Fractional anisotropy of the corpus callosum and pyramidal tracts did correlate with disease severity. Hereditary spastic paraplegia is characterized by relative sparing of the cortical mantle and remarkable damage to the distal portions of the corticospinal tracts, extending into the spinal cord.

Characterization of both myocardial extracellular volume expansion and myocyte mypertrophy by CMR detect early signs of myocardial tissue remodeling in Friedreich's ataxia patients without heart failure.

Characterization of both myocardial extracellular volume expansion and myocyte mypertrophy by CMR detect early signs of myocardial tissue remodeling in Friedreich’s ataxia patients without heart failure. Otavio R Coelho-Filho, Ravi V Shah, Thiago D Venancio, Alberto R Martinez, Tomas G Neilan, Irene Righetti, Cynthia B da Silva, Ingrid Faber, Iscia Lopes-Cendes, Marcondes Franca Jr, Michael Jerosch-Herold