In addition to progressive nephropathy, COQ2 pathogenic recessive variants typically manifest with signs of progressive encephalopathy (including ataxia, generalized amyotrophy, retinitis pigmentosa, bilateral sensorineural deafness, hypotonia, and psychomotor delay), hypertrophic cardiomyopathy, as well as diabetes [20, 21]. This evidence concerns the gene COQ2 and cerebellar ataxia.