ArticleJournal of neurology2025
Structural brain changes contributing to motor signs in pure hereditary spastic paraplegia type 4.
Article in Journal of neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Fampridine in Hereditary Spastic Paraplegia Type 4 With SPAST Variant c.683-2A>C: A Case Report.The American journal of case reports · 2026Article
- Association of spinal cord structure with cognition in hereditary spastic paraplegia type 5.Frontiers in neurology · 2025Article
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Authors and funding
16 authors.
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Abstract
BACKGROUND/
objectivesSpastic paraplegia type 4 (SPG4; also known as SPAST-HSP), the most prevalent variant among pure Hereditary Spastic Paraplegias (HSPs), is clinically characterized by progressive spasticity and weakness in the lower limbs. The present neuroimaging study specifically investigated possible changes in the corticospinal (CST) and thalamo-cortical tracts (TCT) structural integrity and broader cortical, subcortical and spinal pathways, topographically related to upper and lower limbs in SPG4.
methodsForty patients with SPG4 and 40 age- and sex-matched healthy controls underwent 3 T MRI scanning. MRI analyses included: (1) global and primary motor areas cortical thickness; (2) cortical, basal ganglia, thalamic and cerebellar volumetry; (3) diffusion-based probabilistic tractography of CST and TCT serving the arms and legs; and (4) spinal cord area.
resultsSPG4 patients showed significant reductions in thalamic volumes as well as spinal cord area when compared with controls. The volume reduction in thalamic regions correlated with disease severity and spasticity-related impairments. Structural changes in CST and TCT tracts in SPG4 patients were prominent in bundles topographically related to the lower limbs compared with the upper limbs.
conclusionsOur findings point to significant thalamic atrophy as well as white matter tract degeneration topographically related to the lower limbs in SPG4 patients. The findings overall suggest new potential markers for disease progression and functional decline in SPG4 patients.
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