Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.

doi:10.1093/brain/awx297

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Article

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.

Brain : a journal of neurology - 1 Jan 2018

Marelli Cecilia, Lamari Foudil, Rainteau Dominique, Lafourcade Alexandre, Banneau Guillaume, Humbert Lydie, Monin Marie-Lorraine, Petit Elodie, Debs Rabab, Castelnovo Giovanni, Ollagnon Elisabeth, Lavie Julie, Pilliod Julie, Coupry Isabelle, Babin Patrick J, Guissart Claire, Benyounes Imen, Ullmann Urielle, Lesca Gaetan, Thauvin-Robinet Christel, Labauge Pierre, Odent Sylvie, Ewenczyk Claire, Wolf Claude, Stevanin Giovanni, Hajage David, Durr Alexandra, Goizet Cyril, Mochel Fanny

Abstract excerpt

The hereditary spastic paraplegias are an expanding and heterogeneous group of disorders characterized by spasticity in the lower limbs. Plasma biomarkers are needed to guide the genetic testing of spastic paraplegia. Spastic paraplegia type 5 (SPG5) is an autosomal recessive spastic paraplegia due to mutations in CYP7B1, which encodes a cytochrome P450 7α-hydroxylase implicated in cholesterol and bile acids...

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PMID: 29228183
DOI: 10.1093/brain/awx297

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