Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

ABSTRACT:

Background

Hereditary spastic paraplegia (HSP) is a group of rare genetic neurodegenerative disorders characterized by corticospinal tract abnormalities. But frequently, abnormalities of proteins implicated in HSP have been identified in brain disorders of childhood, raising the possibility that early brain developmental mechanism underlying HSP.

Results and conclusions

Here we summarized the clinical features of 89 HSP subtypes and found most have onset of symptoms earliest reported in infancy or early childhood. Importantly, HSP patients showed early brain developmental related phenotypes such as microcephaly, ventricular enlargement, and corpus callosum dysplasia. In addition, the expression trajectories analysis showed HSP genes were diffusely expressed across all human

SUBMITTER: Zhi Y 

PROVIDER: S-EPMC11811889 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature