Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.

doi:10.1093/brain/awx273

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Article

Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.

Brain : a journal of neurology - 1 Dec 2017

Schöls Ludger, Rattay Tim W, Martus Peter, Meisner Christoph, Baets Jonathan, Fischer Imma, Jägle Christine, Fraidakis Matthew J, Martinuzzi Andrea, Saute Jonas Alex, Scarlato Marina, Antenora Antonella, Stendel Claudia, Höflinger Philip, Lourenco Charles Marques, Abreu Lisa, Smets Katrien, Paucar Martin, Deconinck Tine, Bis Dana M, Wiethoff Sarah, Bauer Peter, Arnoldi Alessia, Marques Wilson, Jardim Laura Bannach, Hauser Stefan, Criscuolo Chiara, Filla Alessandro, Züchner Stephan, Bassi Maria Teresa, Klopstock Thomas, De Jonghe Peter, Björkhem Ingemar, Schüle Rebecca

Abstract excerpt

Spastic paraplegia type 5 (SPG5) is a rare subtype of hereditary spastic paraplegia, a highly heterogeneous group of neurodegenerative disorders defined by progressive neurodegeneration of the corticospinal tract motor neurons. SPG5 is caused by recessive mutations in the gene CYP7B1 encoding oxysterol-7α-hydroxylase. This enzyme is involved in the degradation of cholesterol into primary bile acids. CYP7B1...

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PMID: 29126212
DOI: 10.1093/brain/awx273
PMCID: PMC5841036

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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