In recent years, PMPCA has been found to cause SCAR2, with typical phenotype of gait ataxia, dysmetria, dysarthria, nystagmus and intellectual disability in most cases.4,14 Joshi et al, reported a large family with two members presenting with PMPCA mutation; both patients presented at the age of six months with severe developmental delay and failure to thrive with ocular manifestations including bilateral ptosis, and ophthalmoplegia; one died due to severe hypertrophic left ventricular cardiomyopathy and liver failure.30 Here, PMPCA is linked to pathologic nystagmus.