MRI signature may help diagnose AP-4-associated hereditary spastic paraplegia, researchers suggest

Researchers have identified an MRI signature that may aid in the differential diagnosis of AP-4-associated hereditary spastic paraplegia (AP-4-HSP).

AP-4-HSP represents an emerging cause of childhood-onset hereditary paraplegias and can mimic cerebral palsy, the researchers noted. It includes SPG47, SPG50, and SPG52.

To explore the spectrum of brain MRI findings associated with this condition, the researchers examined MRI scans from 76 patients with genetically confirmed AP-4-HSP. They also looked for possible correlations between MRI features and clinical factors, including markers of disease severity and progression.