To use MRI/QSM in order to distinguish ALS patients with the SOD1 mutation from other kinds of genetic or sporadic ALS patients.

The second most common form of genetic ALS is due to the SOD1 gene. Patients with this kind of ALS tend to develop weakly ubiquitin positive, neurofilament positive, TDP43 negative, and SOD1 negative intracytoplasmic hyaline conglomerates in the spinal anterior horn, motor cortex, and occasionally in the frontotemporal regions on pathology. Brain MRI quantitative susceptibility mapping analysis (QSM) identifies degenerating neurons in the motor cortex because of abnormal iron deposition. Currently, we use this technique to examine susceptibility in the motor cortex, which is typically increased in motor neuron disease, correlating with the clinical syndrome and becomes more prominent as the burden of disease increases. We designed a study to retrospectively assess the MRI/QSM in genetic ALS patients with SOD1 mutation for changes outside the motor cortex.

Retrospective study. All patients with suspected ALS seen in Neurology at Hospital for Special Surgery from 2013 through 2018 having SOD1 mutation were reviewed. We identified 8 patients, 3 of which had an MRI with QSM. Our neuroradiologist examined the scans of each patient.

MRI/QSM may not be useful in identifying ALS patients with the SOD1 mutation.