GRM1 and aceruloplasminemia: Recently, Watson and colleagues reported heterozygous dominant mutations in GRM1 gene that are associated with distinct disease phenotypes: gain-of-function point mutations that lead to enhanced receptor activity causing an adult-onset cerebellar ataxia and a truncation mutation that result in a dominant-negative effect causing a juvenile-onset cerebellar ataxia characterized by cognitive impairment (SCA44; Table 1) [230].