Mutations of the SPAST gene that encodes the microtubule-severing enzyme called spastin are the chief cause of Hereditary Spastic Paraplegia. Growing evidence indicates that pathogenic mutations functionally compromise the spastin protein and endow it with toxic gain-of-function properties. With each of these two factors potentially relevant to disease etiology, the present article discusses possible therapeutic strategies that may ameliorate symptoms in patients suffering from SPAST-based Hereditary Spastic Paraplegia, which is usually termed SPG4-HSP.
Therapeutic Strategies for Mutant SPAST-Based Hereditary Spastic Paraplegia
Creators
Neha Mohan - Drexel University
Liang Qiang - Drexel University
Gerardo Morfini - University of Illinois at Chicago
Peter W. Baas - Drexel University
Publication Details
Brain sciences, v 11(8), p1081
Publisher
Mdpi
Number of pages
9
Grant note
Spastic Paraplegia Foundation
R01NS118177; R01NS115977 / NINDS; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Neurological Disorders & Stroke (NINDS)
Resource Type
Journal article
Language
English
Academic Unit
Neurobiology and Anatomy; Pharmacology and Physiology
Web of Science ID
WOS:000688821200001
Scopus ID
2-s2.0-85113405696
Other Identifier
991019168068304721
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