LETTERTOTHEEDITOR ‘Behr syndrome ’ with OPA1 compound heterozygote mutations

Sir, We have been following with great interest the developments in the field of phenotypic diversity associated with mutations in theOPA1 gene, having contributed to describe the DOA ‘plus ’ phenotype in a joint effort with other groups (Amati-Bonneau et al., 2008; Hudson et al., 2008; Yu-Wai-Mann et al., 2010). A developing story concerns the increasingly recognized cases associated with OPA1 mutations presenting with a childhood onset syndrome combining optic atro-phy with spastic paraplegia, cerebellar ataxia and possibly other neurological features (Yu-Wai-Mann et al., 2010; Marelli et al., 2011; Pretegiani et al., 2011; Schaaf et al., 2011). This phenotype fits the description of Behr in 1909, who presented a series of cases of ‘complicated familial optic atrophy with childhood onset ’ includin