Highlights
- •HSP represents a clinically and genetically heterogeneous group of neurodegenerative disorders.
- •The role of MRI in HSPs.
- •The neuroimaging evaluation of a large cohort of diverse subtypes of HSP with a paediatric onset.
- •MRI patterns may provide relevant clues for HSP diagnosis.
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
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Article info
Publication history
Published online: April 10, 2021
Accepted:
April 5,
2021
Received in revised form:
March 6,
2021
Received:
December 29,
2020
Editor: Nicole Villemarette-PittmanIdentification
Copyright
© 2021 Elsevier B.V. All rights reserved.
