MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights - PubMed
6 hours ago
- #hereditary spastic paraplegia
- #genotype-phenotype associations
- #neurodegenerative disorder
- Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder causing progressive spasticity and lower limb weakness.
- Common autosomal dominant HSP forms are caused by variants in SPAST (SPG4), ATL1 (SPG3A), and REEP1 (SPG31).
- The study reviewed 2177 individuals: 1670 with HSP-SPAST, 356 with HSP-ATL1, and 151 with HSP-REEP1.
- HSP-ATL1 has an earlier onset compared to HSP-SPAST and HSP-REEP1.
- Toe-walking is more frequent in HSP-ATL1 (10.4%) and HSP-REEP1 (3.3%) than HSP-SPAST (0.3%).
- Upper limb hyperreflexia and bladder dysfunction are more common in HSP-SPAST.
- Disease progression modeling for HSP-SPAST showed increasing Spastic Paraplegia Rating Scale (SPRS) scores after age 40.
- Truncating variants are more frequent in HSP-SPAST and HSP-REEP1 than HSP-ATL1.
- The study highlights differences in clinical phenotypes among HSP-ATL1, HSP-SPAST, and HSP-REEP1.
- Missing data underscores the need for uniform data collection in HSP research.