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Article

Conserved pharmacological rescue of hereditary spastic paraplegia-related phenotypes across model organisms.

Human molecular genetics - 15 Mar 2016

Julien Carl, Lissouba Alexandra, Madabattula Surya, Fardghassemi Yasmin, Rosenfelt Cory, Androschuk Alaura, Strautman Joel, Wong Clement, Bysice Andrew, O'sullivan Julia, Rouleau Guy A, Drapeau Pierre, Parker J Alex, Bolduc François V

Abstract excerpt

Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative diseases causing progressive gait dysfunction. Over 50 genes have now been associated with HSP. Despite the recent explosion in genetic knowledge, HSP remains without pharmacological treatment. Loss-of-function mutation of the SPAST gene, also known as SPG4, is the most common cause of HSP in patients. SPAST is conserved across animal species...

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Identifiers

PMID: 26744324
DOI: 10.1093/hmg/ddv632
PMCID: PMC4764191

Genes

SPAST

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