Mutations in CLN7 lead to the late infantile onset form of NCL, and similar to the other late infantile NCLs, the CLN7 form of BD is characterized by visual decline, speech delay, myoclonic seizures, developmental regression, incoordination, ataxia and an early death, with age of onset typically between age 2–6 (Aiello et al., 2009; Anderson et al., 2013; Craiu et al., 2015; Kousi et al., 2009; Sharifi et al., 2010; Siintola et al., 2007). Here, MFSD8 is linked to cerebellar ataxia.