Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4.
Details
Serval ID
serval:BIB_0786B21AC8BC
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4.
Journal
Journal of neurology
ISSN
1432-1459 (Electronic)
ISSN-L
0340-5354
Publication state
Published
Issued date
07/2021
Peer-reviewed
Oui
Volume
268
Number
7
Pages
2429-2440
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
Publication Status: ppublish
Abstract
SPG4 is an autosomal dominant pure form of hereditary spastic paraplegia (HSP) caused by mutations in the SPAST gene. HSP is considered an upper motor neuron disorder characterized by progressive spasticity and weakness of the lower limbs caused by degeneration of the corticospinal tract. In other neurodegenerative motor disorders, the thalamus and basal ganglia are affected, with a considerable impact on disease progression. However, only a few works have studied these brain structures in HSP, mainly in complex forms of this disease. Our research aims to detect potential alterations in the volume and shape of the thalamus and various basal ganglia structures by comparing 12 patients with pure HSP and 18 healthy controls. We used two neuroimaging procedures: automated segmentation of the subcortical structures (thalamus, hippocampus, caudate nucleus, globus pallidus, and putamen) in native space and shape analysis of the structures. We found a significant reduction in thalamic volume bilaterally, as well as an inward deformation, mainly in the sensory-motor thalamic regions in patients with pure HSP and a mutation in SPG4. We also observed a significant negative correlation between the shape of the thalamus and clinical scores (the Spastic Paraplegia Rating Scale score and disease duration). Moreover, we found a 'Group × Age' interaction that was closely related to the severity of the disease. No differences in volume or in shape were found in the remaining subcortical structures studied. Our results suggest that changes in structure of the thalamus could be an imaging biomarker of disease progression in pHSP.
Keywords
Atrophy, Basal Ganglia, Humans, Mutation/genetics, Paraplegia, Spastic Paraplegia, Hereditary/diagnostic imaging, Spastic Paraplegia, Hereditary/genetics, Spastin/genetics, Biomarkers, Neuroimaging, Spastic paraplegia, Thalamus
Pubmed
Web of science
Create date
09/02/2021 16:26
Last modification date
20/01/2024 8:12