Neurometabolic Dysfunction in SPG11 Hereditary Spastic Paraplegia.

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.

Inertial Gait Sensors to Measure Mobility and Functioning in Hereditary Spastic Paraplegia: A Cross-sectional Multicenter Clinical Study.

Background And Objectives: Hereditary spastic paraplegia (HSP) causes progressive spasticity and weakness of the lower limbs. As neurologic examination and the clinical Spastic Paraplegia Rating Scale (SPRS) are subject to potential patient-dependent and clinician-dependent bias, instrumented gait analysis bears the potential to objectively quantify impaired gait. The aim of this study was to investigate gait cyclicity parameters by application of a mobile gait analysis system in a cross-sectional cohort of patients with HSP and a longitudinal fast progressing subcohort.