Article
Neurometabolic Dysfunction in SPG11 Hereditary Spastic Paraplegia.
Nutrients - 13 Nov 2022
Regensburger Martin, Krumm Laura, Schmidt Manuel Alexander, Schmid Andreas, Spatz Imke Tabea, Marterstock Dominique Cornelius, Kopp Christoph, Kohl Zacharias, Doerfler Arnd, Karrasch Thomas, Winner Beate, Winkler Jürgen
Abstract excerpt
BACKGROUND: Pathogenic variants in SPG11 cause the most common autosomal recessive complicated hereditary spastic paraplegia. Besides the prototypical combination of spastic paraplegia with a thin corpus callosum, obesity has increasingly been reported in this multisystem neurodegenerative disease. However, a detailed analysis of the metabolic state is lacking. METHODS: In order to characterize metabolic...
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