Hereditary spastic paraplegia type 11 (SPG11) is associated with obesity and hypothalamic damage

In this study, we investigate whether SPG11 pathogenic variants might affect metabolic regulation, leading to weight changes and if this could relate to hypothalamic damage. In this cross-sectional case-control study, we selected a group of individuals with confirmed SPG11 mutations (n  = 20), paired with healthy controls - both groups underwent brain MRI, from which we performed manual hypothalamic segmentation - and patients with Friedreich Ataxia (FRDA), having collected weight and height data for BMI-comparison.
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Tags: Clinical short communication Source Type: research