Given the prior association of ATP13A2 with other motor neuron-affecting phenotypes like Kufor-Rakeb syndrome (MIM #606693), autosomal recessive spastic paraplegia type 78 (MIM #617225), and neuronal ceroid lipofuscinosis type 12 (CLN12; MIM #610513), this variant emerged as a strong candidate. The gene discussed is ATP13A2; the disease is autosomal recessive spastic paraplegia type 78.