Spinal Cord Gray Matter Imaging - a Novel Biomarker for Spinal Muscular Atrophy - a Pilot Study

Patients with the diagnosis of 5q-SMA (spinal muscular atrophy) types II or III (confirmed by genetic testing) will be recruited. Healthy age and sex-matched controls will also be investigated.

Patients will be neurologically investigated at the Neurology Policlinic, University Hospital Basel, including standard muscle force measurements on the British Medical Council (BMC) grade, and quantitative muscle force tests by hand held dynamometer of selected muscles.

All patients will also complete the SMA functional rating scale (SMA-FRS). Age and sex matched healthy controls will also undergo a standardized neurological examination to ensure that no other neurological condition is present that could potentially interfere with the test results.

All participants will be scanned on the same 3 Tesla MR-Scanner (Magnetom PRISMA, Siemens Healthineers) at the University Hospital Basel. The protocol includes axial 2D rAMIRA imaging at selected levels of cervical and thoracic spinal cord at the intervertebral disc levels perpendicular to the spinal cord, and diffusion tensor imaging (DTI) at selected positions, a standard diagnostic high-resolution T2w sequence of the spinal cord and a high-resolution T1w structural imaging of the brain for cortical/subcortical volumetry.

Serum biomarkers will also be evaluated including serum neurofilament light chain (NfL) levels .