Progressive loss of muscle mass in HSP asks for an effective nutritional intervention combined with exercise in order to influence disease progression in HSP, and the SPG11-associated obese phenotype may evolve with disease progression due to multifactorial metabolic changes, beyond reduced mobility.
Key Findings
Results
SPG11-associated HSP showed significantly higher BMI compared to healthy population data, whereas SPG4 and SPG7 BMI were comparable to healthy population data.
SPG11 patients showed +22.9% higher BMI compared to healthy population data (p < 0.05)
SPG4 and SPG7 BMI values were comparable to healthy population data
Considerable interindividual variability was observed in SPG11 BMI
36 patients with genetically confirmed SPG4-, SPG7-, and SPG11-associated HSP were recruited
Results
Disease severity according to the Spastic Paraplegia Rating Scale correlated negatively with leg muscle mass across all genotypes.
Spearman correlation coefficient ρ = -0.39 between SPRS and leg muscle mass (p < 0.05)
This correlation was observed across all three genotypes (SPG4, SPG7, SPG11)
The correlation indicates that greater disease severity is associated with lower leg muscle mass
Results
Disease severity correlated negatively with both protein and fiber intake across all genotypes.
Spearman correlation coefficient ρ = -0.35 between SPRS and protein intake (p < 0.05)
Spearman correlation coefficient ρ = -0.41 between SPRS and fiber intake (p < 0.05)
These correlations suggest that poorer nutritional intake is associated with greater disease severity
Results
After one year of follow-up with nutritional counseling, patients showed a significant loss of relative muscle mass.
Relative muscle mass decreased by -7.2% over one year (p < 0.001)
This finding was observed despite nutritional counseling being provided to participants
The prospective study design included assessment at baseline and one year after nutritional counseling
Methods
This was a prospective explorative pilot study assessing neurological, metabolic, and nutritional status of HSP patients at baseline and one year after nutritional counseling.
Total of 36 patients with genetically confirmed HSP were recruited
Three HSP genotypes were included: SPG4, SPG7, and SPG11
Assessments included neurological, metabolic, and nutritional status
Follow-up period was one year after nutritional counseling
Erhardt C, Spatz I, Herrmann H, Kohl Z, Zopf Y, Gassner H, et al.. (2026). Beyond mobility: A prospective study on diet and metabolism in hereditary spastic paraplegia.. Metabolic brain disease. https://doi.org/10.1007/s11011-026-01815-x