PNPLA6 mutations are found in patients with a wide range of phenotypes: Gordon Holmes spinocerebellar syndrome (ataxia with brisk reflexes and hypogonadism), Boucher-Neuhäuser syndrome (ataxia with chorioretinal dystrophy and hypogonadism), isolated cerebellar ataxia and isolated spastic paraplegia (SPG39) (Rainier et al. 2008; Synofzik et al. 2014). The gene discussed is PNPLA6; the disease is Ataxia - hypogonadism - choroidal dystrophy.