Both rare SPG7 variants, the missense c.1529C > T p.(A510V) variant in patient TALS002-01 and the splice site c.1552 + 1G > T variant in patient MD018, were heterozygous as confirmed by Sanger sequencing (Fig. 1a, d), and had previously been described in ALS or HSP patients (Table 1). Here, SPG7 is linked to hereditary spastic paraplegia.