Reply: Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation

Sir, Pretegiani et al . (2011) describe a 28-year-old female with early-onset optic atrophy who subsequently developed slowly progressive spastic paraplegia. Electrophysiological studies did not suggest a peripheral neuropathy and additional investigations excluded a primary demyelinating process as the cause of her neurological deficits. Interestingly, this patient was eventually found to harbour a previously reported c.2708_2711delTTAG pathogenic deletion in exon 27 of OPA1 —the causative gene in the majority of patients with autosomal dominant optic atrophy. Based on this isolated observation, it is difficult to conclude that migraine and Duane retraction syndrome are causally related to this specific OPA1 mutation. In our original study in Brain , ∼5% of patients with dominant optic atrophy plus (DOA+) suffered from migraine, which is less than the …