Therapeutic Strategies for Mutant SPAST-Based Hereditary Spastic Paraplegia.
Brain Sci
; 11(8)2021 Aug 18.
Article
em En
| MEDLINE
| ID: mdl-34439700
ABSTRACT
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.
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MEDLINE
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En
Ano de publicação:
2021
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Article