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Article

Elevated hydroxycholesterols in Norwegian patients with hereditary spastic paraplegia SPG5.

Journal of the neurological sciences - 15 Dec 2020

Prestsæter Sjur, Koht Jeanette, Lamari Foudil, Tallaksen Chantal M E, Hoven Stian Tobias Juel, Vigeland Magnus Dehli, Selmer Kaja Kristine, Rydning Siri Lynne

Abstract excerpt

Spastic paraplegia type 5 (SPG5/HSP-CYP7B1) is an autosomal recessive hereditary spastic paraplegia (HSP) caused by biallelic variants in the CYP7B1 gene, resulting in dysfunction of the enzyme oxysterol-7-α-hydroxylase. The consequent accumulation of hydroxycholesterols in plasma seems to be pathognomonic for SPG5, and represent a possible target for treatment. We aimed to characterize Norwegian patients with...

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PMID: 33160247
DOI: 10.1016/j.jns.2020.117211

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