000268774 001__ 268774
000268774 005__ 20240419133852.0
000268774 0247_ $$2pmc$$apmc:PMC10973513
000268774 0247_ $$2doi$$a10.1038/s41598-024-53057-5
000268774 0247_ $$2pmid$$apmid:38538623
000268774 037__ $$aDZNE-2024-00318
000268774 041__ $$aEnglish
000268774 082__ $$a600
000268774 1001_ $$aEhnert, Sabrina$$b0
000268774 245__ $$aVitamin D3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis.
000268774 260__ $$a[London]$$bMacmillan Publishers Limited, part of Springer Nature$$c2024
000268774 3367_ $$2DRIVER$$aarticle
000268774 3367_ $$2DataCite$$aOutput Types/Journal article
000268774 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1712654823_12206
000268774 3367_ $$2BibTeX$$aARTICLE
000268774 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000268774 3367_ $$00$$2EndNote$$aJournal Article
000268774 520__ $$aHereditary spastic paraplegia type 5 (SPG5) is an autosomal recessively inherited movement disorder characterized by progressive spastic gait disturbance and afferent ataxia. SPG5 is caused by bi-allelic loss of function mutations in CYP7B1 resulting in accumulation of the oxysterols 25-hydroxycholesterol and 27-hydroxycholesterol in serum and cerebrospinal fluid of SPG5 patients. An effect of 27- hydroxycholesterol via the estrogen and liver X receptors was previously shown on bone homeostasis. This study analyzed bone homeostasis and osteopenia in 14 SPG5 patients as a non-motor feature leading to a potential increased risk for bone fractures. T-Scores in CT bone density measurements were reduced, indicating osteopenia in SPG5 patients. Further, we analyzed various metabolites of bone homeostasis by ELISA in serum samples of these patients. We identified a lack of vitamin D3 metabolites (Calcidiol and Calcitriol), an increase in Sclerostin as a bone formation/mineralization inhibiting factor, and a decrease in cross-linked N-telopeptide of type I collagen (NTX), a marker indicating reduced bone resorption. As statin treatment has been found to lower oxysterol levels, we evaluated its effect in samples of the STOP-SPG5 trial and found atorvastatin to normalize the increased sclerostin levels. In summary, our study identified osteopenia as a non-motor feature in SPG5 and suggests the need for vitamin D3 substitution in SPG5 patients. Sclerostin may be considered a therapeutic target and biomarker in upcoming therapeutical trials in SPG5.
000268774 536__ $$0G:(DE-HGF)POF4-353$$a353 - Clinical and Health Care Research (POF4-353)$$cPOF4-353$$fPOF IV$$x0
000268774 536__ $$0G:(DE-HGF)POF4-352$$a352 - Disease Mechanisms (POF4-352)$$cPOF4-352$$fPOF IV$$x1
000268774 588__ $$aDataset connected to CrossRef, PubMed, , Journals: pub.dzne.de
000268774 650_7 $$2NLM Chemicals$$aOxysterols
000268774 650_7 $$01406-16-2$$2NLM Chemicals$$aVitamin D
000268774 650_2 $$2MeSH$$aHumans
000268774 650_2 $$2MeSH$$aMutation
000268774 650_2 $$2MeSH$$aSpastic Paraplegia, Hereditary: genetics
000268774 650_2 $$2MeSH$$aSpastic Paraplegia, Hereditary: metabolism
000268774 650_2 $$2MeSH$$aOxysterols
000268774 650_2 $$2MeSH$$aParaplegia
000268774 650_2 $$2MeSH$$aHomeostasis
000268774 650_2 $$2MeSH$$aVitamin D: therapeutic use
000268774 7001_ $$0P:(DE-2719)2810998$$aHauser, Stefan$$b1$$udzne
000268774 7001_ $$0P:(DE-2719)2811940$$aHengel, Holger$$b2
000268774 7001_ $$0P:(DE-2719)2813301$$aHöflinger, Philip$$b3$$udzne
000268774 7001_ $$0P:(DE-2719)2812018$$aSchüle, Rebecca$$b4$$udzne
000268774 7001_ $$aLindig, Tobias$$b5
000268774 7001_ $$aBaets, Jonathan$$b6
000268774 7001_ $$aDeconinck, Tine$$b7
000268774 7001_ $$ade Jonghe, Peter$$b8
000268774 7001_ $$aHisting, Tina$$b9
000268774 7001_ $$aNüssler, Andreas K$$b10
000268774 7001_ $$0P:(DE-2719)2810795$$aSchöls, Ludger$$b11$$udzne
000268774 7001_ $$0P:(DE-2719)2811827$$aRattay, Tim$$b12$$eLast author$$udzne
000268774 773__ $$0PERI:(DE-600)2615211-3$$a10.1038/s41598-024-53057-5$$gVol. 14, no. 1, p. 7335$$n1$$p7335$$tScientific reports$$v14$$x2045-2322$$y2024
000268774 8564_ $$uhttps://pub.dzne.de/record/268774/files/DZNE-2024-00318%20SUP.docx
000268774 8564_ $$uhttps://pub.dzne.de/record/268774/files/DZNE-2024-00318.pdf$$yOpenAccess
000268774 8564_ $$uhttps://pub.dzne.de/record/268774/files/DZNE-2024-00318%20SUP.doc
000268774 8564_ $$uhttps://pub.dzne.de/record/268774/files/DZNE-2024-00318%20SUP.odt
000268774 8564_ $$uhttps://pub.dzne.de/record/268774/files/DZNE-2024-00318%20SUP.pdf
000268774 8564_ $$uhttps://pub.dzne.de/record/268774/files/DZNE-2024-00318.pdf?subformat=pdfa$$xpdfa$$yOpenAccess
000268774 909CO $$ooai:pub.dzne.de:268774$$pdnbdelivery$$pdriver$$pVDB$$popen_access$$popenaire
000268774 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2810998$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b1$$kDZNE
000268774 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2811940$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b2$$kDZNE
000268774 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2813301$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b3$$kDZNE
000268774 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2812018$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b4$$kDZNE
000268774 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2810795$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b11$$kDZNE
000268774 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2811827$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b12$$kDZNE
000268774 9131_ $$0G:(DE-HGF)POF4-353$$1G:(DE-HGF)POF4-350$$2G:(DE-HGF)POF4-300$$3G:(DE-HGF)POF4$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lNeurodegenerative Diseases$$vClinical and Health Care Research$$x0
000268774 9131_ $$0G:(DE-HGF)POF4-352$$1G:(DE-HGF)POF4-350$$2G:(DE-HGF)POF4-300$$3G:(DE-HGF)POF4$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lNeurodegenerative Diseases$$vDisease Mechanisms$$x1
000268774 9141_ $$y2024
000268774 915__ $$0LIC:(DE-HGF)CCBY4$$2HGFVOC$$aCreative Commons Attribution CC BY 4.0
000268774 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS$$d2023-08-24
000268774 915__ $$0StatID:(DE-HGF)0160$$2StatID$$aDBCoverage$$bEssential Science Indicators$$d2023-08-24
000268774 915__ $$0StatID:(DE-HGF)1050$$2StatID$$aDBCoverage$$bBIOSIS Previews$$d2023-08-24
000268774 915__ $$0StatID:(DE-HGF)1190$$2StatID$$aDBCoverage$$bBiological Abstracts$$d2023-08-24
000268774 915__ $$0StatID:(DE-HGF)0600$$2StatID$$aDBCoverage$$bEbsco Academic Search$$d2023-08-24
000268774 915__ $$0StatID:(DE-HGF)1040$$2StatID$$aDBCoverage$$bZoological Record$$d2023-08-24
000268774 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bSCI REP-UK : 2022$$d2023-08-24
000268774 915__ $$0StatID:(DE-HGF)0501$$2StatID$$aDBCoverage$$bDOAJ Seal$$d2023-04-12T15:11:06Z
000268774 915__ $$0StatID:(DE-HGF)0500$$2StatID$$aDBCoverage$$bDOAJ$$d2023-04-12T15:11:06Z
000268774 915__ $$0StatID:(DE-HGF)0113$$2StatID$$aWoS$$bScience Citation Index Expanded$$d2023-08-24
000268774 915__ $$0StatID:(DE-HGF)0700$$2StatID$$aFees$$d2023-08-24
000268774 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection$$d2023-08-24
000268774 915__ $$0StatID:(DE-HGF)9900$$2StatID$$aIF < 5$$d2023-08-24
000268774 915__ $$0StatID:(DE-HGF)0510$$2StatID$$aOpenAccess
000268774 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bASC$$d2023-08-24
000268774 915__ $$0StatID:(DE-HGF)0561$$2StatID$$aArticle Processing Charges$$d2023-08-24
000268774 915__ $$0StatID:(DE-HGF)1150$$2StatID$$aDBCoverage$$bCurrent Contents - Physical, Chemical and Earth Sciences$$d2023-08-24
000268774 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline$$d2023-08-24
000268774 915__ $$0StatID:(DE-HGF)0320$$2StatID$$aDBCoverage$$bPubMed Central$$d2023-08-24
000268774 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List$$d2023-08-24
000268774 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bDOAJ : Anonymous peer review$$d2023-04-12T15:11:06Z
000268774 9201_ $$0I:(DE-2719)1210000$$kAG Gasser$$lParkinson Genetics$$x0
000268774 9201_ $$0I:(DE-2719)1210016$$kAG Hauser$$lAdvanced cellular models of neurodegeneration$$x1
000268774 9201_ $$0I:(DE-2719)5000005$$kAG Schöls$$lClinical Neurogenetics$$x2
000268774 980__ $$ajournal
000268774 980__ $$aVDB
000268774 980__ $$aUNRESTRICTED
000268774 980__ $$aI:(DE-2719)1210000
000268774 980__ $$aI:(DE-2719)1210016
000268774 980__ $$aI:(DE-2719)5000005
000268774 9801_ $$aFullTexts