Table 6.

Genetic data in controls and patients with idiopathic SFN who have an alteration in GLA, as well as corresponding biochemical results

No significant differences (p<0.05) were evident between the total number of individuals with genetic alterations in GLA, nor for each respective haplotype in patients vs. controls.

^*Patient c.937G>T [D313Y], control c.352C>T [R118C]. The considered pathological or unclear results of single nucleotide polymorphism combinations in the haplotypes are in italics, ^†Haplotype 1=IVS0-10C>T [rs2071225], IVS2-81--77delCAGCC, IVS4-16A>G [rs2071397], IVS6-22C>T [rs2071228], ^‡Haplotype 2=IVS4-854--853delAG, IVS0-12A>G [rs3027585], IVS4+68A>G [rs3027589], IVS6-22C>T [rs2071228], ^§Haplotype 3=IVS4-854--853delAG, IVS0-12A>G [rs3027585], (IVS2-81--77delCAGCC), IVS4+68A>G [rs3027589], IVS4-16A>G [rs2071397], IVS6-22C>T [rs2071228], ^∥Haplotype 4=IVS4+18 G>A, IVS4+771C>T [rs5991933], IVS6-22C>T [rs2071228], ^¶Haplotype 5=IVS3-72--68delAATAA, ^**Haplotype 6=IVS4+739C>T, IVS0-10C>T [rs2071225], IVS6-22C>T [rs2071228], ^††Two patients with haplotype 1. Skin Gb₃ was not examined for one patient.

α-GAL: alpha-galactosidase A, Gb₃: globotriaosylceramide, GLA: alpha-galactosidase A gene, SFN: small fiber neuropathy.