Vitamin D

Journal

Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288

Informations de publication

Date de publication:
27 Mar 2024
Historique:
received: 24 07 2023
accepted: 27 01 2024
medline: 28 3 2024
pubmed: 28 3 2024
entrez: 28 3 2024
Statut: epublish

Résumé

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- 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 D

Identifiants

DOI: 10.1038/s41598-024-53057-5 PMID: 38538623
pubmed: 38538623
doi: 10.1038/s41598-024-53057-5
pii: 10.1038/s41598-024-53057-5
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

7335

Subventions

Organisme : University of Tübingen
ID : #386-0-0

Informations de copyright

© 2024. The Author(s).

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Auteurs

Sabrina Ehnert (S)

Siegfried Weller Research Institute at the BG Unfallklinik Tübingen, Department of Trauma and Reconstructive Surgery, University of Tübingen, Schnarrenbergstr. 95, 72076, Tübingen, Germany.

Stefan Hauser (S)

German Center of Neurodegenerative Diseases (DZNE), 72076, Tübingen, Germany.

Holger Hengel (H)

German Center of Neurodegenerative Diseases (DZNE), 72076, Tübingen, Germany.
Department of Neurodegenerative Disease, Hertie-Institute for Clinical Brain Research, and Center for Neurology, University of Tübingen, Hoppe-Seyler-Straße 3, 72076, Tübingen, Germany.

Philip Höflinger (P)

German Center of Neurodegenerative Diseases (DZNE), 72076, Tübingen, Germany.
Department of Neurodegenerative Disease, Hertie-Institute for Clinical Brain Research, and Center for Neurology, University of Tübingen, Hoppe-Seyler-Straße 3, 72076, Tübingen, Germany.

Rebecca Schüle (R)

German Center of Neurodegenerative Diseases (DZNE), 72076, Tübingen, Germany.
Department of Neurodegenerative Disease, Hertie-Institute for Clinical Brain Research, and Center for Neurology, University of Tübingen, Hoppe-Seyler-Straße 3, 72076, Tübingen, Germany.

Tobias Lindig (T)

Department of Diagnostic and Interventional Neuroradiology, University Hospital Tübingen, 72076, Tübingen, Germany.

Jonathan Baets (J)

Neurogenetics Group, Center for Molecular Neurology, VIB, 2610, Antwerp, Belgium.
Department of Neurology, Antwerp University Hospital, 2610, Antwerp, Belgium.
Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, 2610, Antwerp, Belgium.

Tine Deconinck (T)

Neurogenetics Group, Center for Molecular Neurology, VIB, 2610, Antwerp, Belgium.
Department of Neurology, Antwerp University Hospital, 2610, Antwerp, Belgium.
Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, 2610, Antwerp, Belgium.

Peter de Jonghe (P)

Neurogenetics Group, Center for Molecular Neurology, VIB, 2610, Antwerp, Belgium.
Department of Neurology, Antwerp University Hospital, 2610, Antwerp, Belgium.
Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, 2610, Antwerp, Belgium.

Tina Histing (T)

BG Unfallklinik Tübingen, Department of Trauma and Reconstructive Surgery, University of Tübingen, Schnarrenbergstr. 95, 72076, Tübingen, Germany.

Andreas K Nüssler (AK)

Siegfried Weller Research Institute at the BG Unfallklinik Tübingen, Department of Trauma and Reconstructive Surgery, University of Tübingen, Schnarrenbergstr. 95, 72076, Tübingen, Germany.

Ludger Schöls (L)

German Center of Neurodegenerative Diseases (DZNE), 72076, Tübingen, Germany. ludger.schoels@uni-tuebingen.de.
Department of Neurodegenerative Disease, Hertie-Institute for Clinical Brain Research, and Center for Neurology, University of Tübingen, Hoppe-Seyler-Straße 3, 72076, Tübingen, Germany. ludger.schoels@uni-tuebingen.de.
Center for Rare Diseases (ZSE), University of Tübingen, Tübingen, Germany. ludger.schoels@uni-tuebingen.de.

Tim W Rattay (TW)

German Center of Neurodegenerative Diseases (DZNE), 72076, Tübingen, Germany.
Department of Neurodegenerative Disease, Hertie-Institute for Clinical Brain Research, and Center for Neurology, University of Tübingen, Hoppe-Seyler-Straße 3, 72076, Tübingen, Germany.
Center for Rare Diseases (ZSE), University of Tübingen, Tübingen, Germany.
Center for Rare Diseases (ZSE), University of Schleswig Holstein, Kiel, Germany.
Department of Neurology, Christian-Albrechts University, Kiel, Germany.

Classifications MeSH