Vitamin D3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis

Vitamin D3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis

Abstract Hereditary spastic paraplegia type 5 (SPG5) is an autosomal recessively inherited movement disorder characterized by progressive spastic gait disturbance and afferent ataxia. SPG5 is caused by bi-allelic loss of function mutations in CYP7B1 resulting in accumulation of the oxysterols 25-hyd...

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Main Authors: Sabrina Ehnert, Stefan Hauser, Holger Hengel, Philip Höflinger, Rebecca Schüle, Tobias Lindig, Jonathan Baets, Tine Deconinck, Peter de Jonghe, Tina Histing, Andreas K. Nüssler, Ludger Schöls, Tim W. Rattay
Format: Article
Language:English
Published: Nature Portfolio 2024-03-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-024-53057-5

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https://doi.org/10.1038/s41598-024-53057-5

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