Resting state fMRI studies in SPG4-linked hereditary spastic paraplegia.

OBJECTIVE

The study aimed to investigate the functional alterations of spontaneous brain activity in patients with spastic paraplegia type 4 (SPG4), and the relationship with the severity of spasticity.

METHODS

Twelve patients with SPG4 and ten healthy controls underwent resting-state functional magnetic resonance imaging (rs-fMRI). Amplitude of low-frequency fluctuation (ALFF) and regional homogeneity (ReHo) were used to characterize regional neural function, and functional connectivity (FC) was used to evaluate the functional integration of the brain network.

RESULTS

Compared to healthy controls, patients with SPG4 exhibited significantly decreased ReHo values in the medial superior frontal gyrus. ALFF values were lower in left insula and higher in right precentral and superior frontal gyrus of the patient group. Increased ALFF values in the right precentral gyrus negatively correlated with Spastic Paraplegia Rating Scale (SPRS) scores in the patients. The connectivity study showed that the SPG4 patients had one increased FC between the left middle frontal gyrus to the left middle orbitofrontal gyrus, and pairs of decreased FC.

CONCLUSIONS

Our findings confirm that the baseline regional neural activity and interregional connectivity are altered in many brain regions in patients with SPG4, and certain changes are correlated with disease severity, providing potential diagnostic markers for SPG4.