Multimodal study of spinal cord damage in Friedreich's Ataxia

• Grant number: 19/24240-7
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: April 01, 2020
• End date: December 31, 2020
• Field of knowledge: Health Sciences - Medicine
• Principal Investigator: Marcondes Cavalcante Franca Junior
• Grantee: Ana Luisa de Carvalho Cardozo Hernández
• Host Institution: Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil

Abstract

Friedreich s Ataxia (FRDA) is the most common autosomal recessive inheritance ataxia in the world, and spinal cord atrophy is a classic finding in this disease. Magnetic resonance imaging studies, based on manual or semi-automatic methods, already confirm this finding in vivo. However, with the advancement of computational methods, automated segmentation techniques and new imaging sequences allow us to further evaluate the spinal gray (GM) and white (WM) matter separately. We then propose a cross-sectional study using a new automated spinal segmentation tool to quantify and characterize spinal cord atrophy in patients with FRDA. Materials and Methods: Patients with molecular diagnosis of FRDA (n = 15) and controls matched by age and gender will be recruited. We will collect clinical data regarding age at disease onset, duration and severity of disease (FARS), motor function and genetic profile. Patients and controls will undergo magnetic resonance imaging on a 3T scanner (Achieva-Intera PHILIPS®) for T1, T2, T2 * weighted imaging and spinal cord diffusion tensor. We will use the Spinal Cord Toolbox v4.0.0-beta5 tool to obtain automatic segmentation of total GM and cross-sectional area, as well as the diffusion parameters to evaluate WM tracts. A generalized linear model will be performed with the obtained data, using the cross-sectional area, age and sex as covariates of interest. Correlations between values obtained and clinical parameters (age, disease duration and FARS) will be made using a linear regression model. The values obtained will be adjusted by Bonferroni correction.

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

HERNANDEZ, ANA LUISA C. C.; REZENDE, THIAGO J. R.; MARTINEZ, ALBERTO R. M.; DE BRITO, MARIANA R.; FRANCA JR, MARCONDES C.. ract-Specific Spinal Cord Diffusion Tensor Imaging in Friedreich's Ataxi. MOVEMENT DISORDERS, v. 37, n. 2, OCT 2021. (13/07559-3, 19/24240-7)