Genetic tests performed before WES excluded Huntington’s disease (IT15), spinal muscular atrophy (SMN1), spinal bulbar muscular atrophy (AR), primary torsion dystonia (DYT1), and the common forms of spastic paraplegias (SPG4, REEP1, ATL1, SPG7). This evidence concerns the gene REEP1 and spinal muscular atrophy.