Article
New cellular imaging-based method to distinguish the SPG4 subtype of hereditary spastic paraplegia.
European journal of neurology - 1 Jun 2023
Sardina Francesca, Valente Davide, Fattorini Gaia, Cioffi Ettore, Zanna Gianmarco Dalla, Tessa Alessandra, Trisciuoglio Daniela, Soddu Silvia, Santorelli Filippo M, Casali Carlo, Rinaldo Cinzia
Abstract excerpt
BACKGROUND AND PURPOSE: Microtubule defects are a common feature in several neurodegenerative disorders, including hereditary spastic paraplegia. The most frequent form of hereditary spastic paraplegia is caused by mutations in the SPG4/SPAST gene, encoding the microtubule severing enzyme spastin. To date, there is no effective therapy available but spastin-enhancing therapeutic approaches are emerging; thus...
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