Therapeutic Strategies for Mutant SPAST-Based Hereditary Spastic Paraplegia

Autor:	Neha Mohan, Liang Qiang, Gerardo Morfini, Peter W. Baas
Jazyk:	angličtina
Rok vydání:	2021
Předmět:	Hereditary Spastic Paraplegia spastin SPAST microtubule SPG4-HSP haploinsufficiency Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
Zdroj:	Brain Sciences, Vol 11, Iss 8, p 1081 (2021)
Druh dokumentu:	article
ISSN:	2076-3425
DOI:	10.3390/brainsci11081081
Popis:	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.
Databáze:	Directory of Open Access Journals
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