A novel truncating variant of SPAST associated with hereditary spastic paraplegia indicates a haploinsufficiency pathogenic mechanism

INTRODUCTION: Hereditary spastic paraplegias (HSPs) are genetic neurodegenerative diseases. The most common form of pure HSP that is inherited in an autosomal dominant manner is spastic paraplegia type 4 (SPG4), which is caused by mutations in the SPAST gene. Different theories have been proposed as...

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Detalles Bibliográficos
Autores principales: Nan, Haitian, Chu, Min, Liu, Li, Xie, Kexin, Wu, Liyong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9703935/
https://www.ncbi.nlm.nih.gov/pubmed/36452170
http://dx.doi.org/10.3389/fneur.2022.1005544

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9703935/
https://www.ncbi.nlm.nih.gov/pubmed/36452170
http://dx.doi.org/10.3389/fneur.2022.1005544

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