Recently, compound heterozygous mutations in SCYL1 were shown to be associated with a syndrome characterized byperipheral neuropathy, cerebellar atrophy, ataxia, and recurrent episodes of ALF inthree individuals from two families.17 Like NBAS, SCYL1 is involved in retrograde transport, scaffoldingclass II adenosine diphosphate ribosylation factors that couple COPI coat proteinsto membranes for the formation of coatomer complexes;18 in possible association with this, SCYL1 is known to regulate Golgi morphology.17,19 However, specific disease mechanisms are yet to be elucidated. The gene discussed is SCYL1; the disease is Ataxia.