Neuroimaging in Hereditary Spastic Paraplegias: Current Use and Future Perspectives

Author(s)

da Graca, Felipe Franco ^{[1, 2]} ; Ribeiro de Rezende, Thiago Junqueira ^{[1, 2]} ; Rocha Vasconcellos, Luiz Felipe ^[3] ; Pedroso, Jose Luiz ^[4] ; Barsottini, Orlando Graziani P. ^[4] ; Franca, Jr., Marcondes C. ^{[1, 2]}

Affiliation

^[1] Univ Campinas UNICAMP, Dept Neurol, Campinas, SP - Brazil

^[2] Univ Campinas UNICAMP, Neuroimaging Lab, Campinas, SP - Brazil

^[3] Fed Univ Rio De Janeiro UFRJ, Inst Neurol, Rio De Janeiro - Brazil

^[4] Fed Univ Sao Paulo UNIFESP, Dept Neurol, Sao Paulo - Brazil

• Document type: Review article
• Source: FRONTIERS IN NEUROLOGY; v. 9, JAN 16 2019.
• Web of Science Citations: 1

Abstract

Hereditary spastic paraplegias (HSP) are a large group of genetic diseases characterized by progressive degeneration of the long tracts of the spinal cord, namely the corticospinal tracts and dorsal columns. Genotypic and phenotypic heterogeneity is a hallmark of this group of diseases, which makes proper diagnosis and management often challenging. In this scenario, magnetic resonance imaging (MRI) emerges as a valuable tool to assist in the exclusion of mimicking disorders and in the detailed phenotypic characterization. Some neuroradiological signs have been reported in specific subtypes of HSP and are therefore helpful to guide genetic testing/interpretation. In addition, advanced MRI techniques enable detection of subtle structural abnormalities not visible on routine scans in the spinal cord and brain of subjects with HSP. In particular, quantitative spinal cord morphometry and diffusion tensor imaging look promising tools to uncover the pathophysiology and to track progression of these diseases. In the current review article, we discuss the current use and future perspectives of MRI in the context of HSP. (AU)

• FAPESP's process: 13/01766-7 - Sensory neuronopathies: investigation of new diagnostic methods, mechanisms of the disease and therapeutic strategies
• Grantee: Marcondes Cavalcante Franca Junior
• Support Opportunities: Research Grants - Young Investigators Grants