Neuroimaging patterns in paediatric onset hereditary spastic paraplegias

Abstract

Hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and weakness of the lower limbs with a notable phenotypic variation and an autosomal recessive (AR), autosomal dominant (AD), and X-linked inheritance pattern. The recent clinical use of next generation sequencing methods has facilitated the diagnostic approach to HSPs, but the diagnosis remains quite challenging considering its wide clinical and genetic heterogeneity. In this scenario, magnetic resonance imaging (MRI) emerges as a valuable tool in helping to exclude mimicking disorders and to guide genetic testing. The aim of this study is to investigate the presence of possible patterns of morphostructural MRI findings that may provide relevant clues for a specific genetic HSP subtype. In our cohort, for example, white matter abnormalities were the most common finding followed by the thinning of the corpus callosum, which, interestingly, presented different thinning characteristics depending on the HSP subtype.

Keywords: Corpus callosum; HSP diagnosis; Hereditary spastic paraparesis; Magnetic resonance imaging; White matter.