PNPLA6 and cerebellar ataxia: Subsequently, mutations in PNPLA6 have also been linked with Boucher–Neuhäuser, Gordon–Holmes, Laurence–Moon, and Oliver–McFarlane Syndrome, complex diseases with varying clinical symptoms that include hypogonadism, chorioretinal dystrophy, ataxia, spasticity, and, although less frequently, peripheral neuropathy and impaired cognitive functions (Deik et al., 2014; Synofzik et al., 2014; Topaloglu et al., 2014; Kmoch et al., 2015).