Medullar atrophy progression in Friedreich Ataxia

Resumo

Friedreich's Ataxia (FRDA) is the most common recessive autosomal ataxia, with early, poor prognosis and few treatment options. Despite established clinical scales are available for the follow-up of patients funcionality, little is known about the actual nervous system damage progression. The cervical cord seems to be the first area affected by degeneration, followed by other neurological areas. The relationship between cervical spinal cord injury and the clinical status of an individual has been demonstrated in previous cross-sectional studies based on neuroimaging. The literature lacks, however, longitudinal research on the progression of cervical spinal cord neurodegeneration. In this article, we intended to analyze the progression of spinal cord injury (through neuroimaging) over time in comparison with clinical deterioration progression and also with spinal cord injury progression in normal individuals. The analysis could have enabled using spinal cord damage measures over time as a biomarker for progression of FRDA, making posible to use it in clinical trials as an objetive to stop or delay the disease’s progression.