Hereditary spastic paraparesis due to SPG5/CYP7B1 mutation with potential therapeutic implications

Neurologia (Engl Ed). 2023 Nov-Dec;38(9):710-711. doi: 10.1016/j.nrleng.2023.10.005. Epub 2023 Oct 17.

Authors

P Pérez-Torre¹, E García Galloway², J L López-Sendón Moreno³

Affiliations

¹ Servicio de Neurología, IRYCIS, Hospital Universitario Ramón y Cajal, Madrid, Spain.
² Servicio de Genética, Hospital Universitario Ramón y Cajal, Madrid, Spain.
³ Servicio de Neurología, IRYCIS, Hospital Universitario Ramón y Cajal, Madrid, Spain. Electronic address: jlsendonmoreno@salud.madrid.org.

PMID: 37858890
DOI: 10.1016/j.nrleng.2023.10.005

No abstract available

Publication types

Letter

MeSH terms

Cytochrome P450 Family 7 / genetics
Humans
Mutation
Paraparesis, Spastic* / genetics
Spastic Paraplegia, Hereditary* / genetics
Steroid Hydroxylases / genetics
Steroid Hydroxylases / therapeutic use

Substances

CYP7B1 protein, human
Cytochrome P450 Family 7
Steroid Hydroxylases