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Neurometabolic Dysfunction in SPG11 Hereditary Spastic Paraplegia
Martin Regensburger1,2,3, Laura Krumm2, Manuel Alexander Schmidt4
1Division of Molecular Neurology, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany.
Nutrients
|November 26, 2022
Summary
SPG11 patients show altered body composition, adipokine levels, and reduced hypothalamic volume. These findings suggest a link between obesity and neurodegeneration in SPG11, potentially benefiting from metabolic interventions.
Area of Science:
- Neurodegenerative diseases
- Metabolic disorders
- Genetics
Background:
- SPG11 gene variants cause hereditary spastic paraplegia.
- Obesity is increasingly observed in SPG11 patients.
- Metabolic alterations in SPG11 remain poorly understood.
Purpose of the Study:
- To characterize metabolic alterations in SPG11.
- To investigate body composition and serum biomarkers.
- To assess hypothalamic volume in SPG11 patients.
Main Methods:
- Cross-sectional study comparing 16 SPG11 patients and 16 controls.
- Quantification of anthropometric parameters and body composition (bioimpedance spectroscopy).
- Measurement of serum metabolic biomarkers and hypothalamic volume (high-field MRI).
Main Results:
- SPG11 patients displayed increased fat mass and decreased lean mass.
- Altered serum levels of adipokines (leptin, resistin, progranulin) were observed.
- Reduced hypothalamic volume was detected in SPG11 patients via MRI.
Conclusions:
- SPG11 is associated with significant changes in body composition, adipokine profiles, and hypothalamic volume.
- Evidence suggests a connection between obesity and hypothalamic neurodegeneration in SPG11.
- Metabolic interventions may be beneficial for managing obesity in SPG11 patients with mobility impairments.
