Elevated hydroxycholesterols in Norwegian patients with hereditary spastic paraplegia SPG5
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DOI: 10.1016/j.jns.2020.117211
Abstract: 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… read more here.
Keywords: hereditary spastic; hsp; spastic paraplegia; paraplegia ... See more keywords