PNPLA6 and cerebellar ataxia: Subsequently, this gene was associated with a broad neurodegenerative spectrum, frequently including ataxia, motor neuron disease, chorioretinal dystrophy and hypogonadism [5, 6], and recently, PNPLA6 was independently identified as the genetic cause in several families with Laurence-Moon syndrome (LNMS, MIM #245800), Oliver-McFarlane syndrome (OMCS, MIM #275400) and Leber congenital amaurosis (LCA1, MIM #204000) [7, 8].