Interestingly, Calreticulin has been implicated in regulating motor neuron pathology in a related motor neuron disease (amyotrophic lateral sclerosis; ALS) [43], suggesting that, alongside its potential to act as a molecular biomarker for SMA, further investigations into its possible contribution to the pathogenesis of SMA are warranted. The gene discussed is CALR; the disease is proximal spinal muscular atrophy.