ATP13A2 and Kufor-Rakeb syndrome: 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.