Intriguingly, DCTN1 expression is markedly downregulated in motor neurons of sporadic ALS patients [18], and the missense mutation in DCTN1 has also been linked to the autosomal dominant distal hereditary motor neuronopathy type VIIB (HMN7B) [32], indicating the crucial role of DCTN1 not only in Perry syndrome, but also in motor neuron diseases, including ALS. The gene discussed is DCTN1; the disease is amyotrophic lateral sclerosis.