Finally, 13/39 sporadic patients with ataxia (33.3%) received a genetic diagnosis as follows: four with homozygous intron 1 expansion in FXN; three biallelic variants in SPG7, 2 CANVAS, 1 SACS, 1 SCA1, 1 SCA2; and one FXTAS. The gene discussed is SPG7; the disease is Ataxia.