SPG7 and amyotrophic lateral sclerosis: 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).