SPAST and oculopharyngeal muscular dystrophy: In case 62, we did not have DNA from any other family members and we were unable to establish if the two mutations were inherited in-cis or in-trans, but p.Asn579His has previously been reported as pathogenic both in association with a second mutation18 and in isolation.19 One case (37) presenting with two concurrent autosomal-dominant mutations (SPAST and OPMD) was described in details here20 and was removed from further phenotype analysis.