Article
Vitamin D3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis.
Scientific reports - 27 Mar 2024
Ehnert Sabrina, Hauser Stefan, Hengel Holger, Höflinger Philip, Schüle Rebecca, Lindig Tobias, Baets Jonathan, Deconinck Tine, de Jonghe Peter, Histing Tina, Nüssler Andreas K, Schöls Ludger, Rattay Tim W
Abstract excerpt
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-hydroxycholesterol and 27-hydroxycholesterol in serum and cerebrospinal fluid of SPG5 patients. An effect of 27-...
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