However, clinicians may bear in mind that the following may have ataxia as an associated feature: Lafora disease (EPM2A, EPM2B), megalencephalic leukoencephalopathy with subcortical cysts (MLC1), COL18A1-linked ataxia epilepsy cognitive problems and visual problems, Perrault syndrome (HSD17B4), Zellweger-spectrum disorders (PEX2), Wolfram syndrome (WFS1), Canavan disease (ASPA), metachromatic leukodystrophy (ARSA), Galloway-Mowat syndrome (WDR73), and GLUT-1 deficiency (SCL2A1). The gene discussed is COL18A1; the disease is Perrault syndrome.