Table 2. GALC mutational analysis.
| Allele 1 | Allele 2 | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| Promoter | Exonic Variants | Synonymous | Promoter | Exonic Variants | Synonymous | ||||
| AD | c.-287 G>A | p.Ile562Thr | p.Q328Q | ||||||
| AD | c.-287 G>A | p.Ile562Thr | p.D110D | c.-148 T>C | p.Ala21Pro | p.Asp248Asn | p.A14A/G25G | ||
| AD | p.Ile562Thr | p.S450S | p.Ile562Thr | p.S450S | |||||
| AD | c.-287 G>A | p.Ile562Thr | p.Q328Q | ||||||
| AD | p.Q328Q | p.Q328Q | |||||||
| AD | c.-148 T>C | p.Ala21Pro | p.Asp248Asn | p.A14A/G25G | p.Q328Q | ||||
| AD | c.-287 G>A | p.Ile562Thr | p.Q328Q | ||||||
| AD | p.Q328Q | p.Q328Q | |||||||
| AD | p.Ile562Thr | p.S450S | p.Ile562Thr | p.S450S | |||||
| AD | c.-287 G>A | p.Ile562Thr | p.Q328Q | ||||||
| PD | p.Ile562Thr | p.S450S | p.Q328Q | ||||||
| PD | p.Ile562Thr | p.S450S | p.Q328Q | ||||||
| PD | p.Q328Q | p.Q328Q | |||||||
| PD | p.Ile562Thr | p.S450S | p.Q328Q | ||||||
| PD | p.Arg184Cys | p.Ile562Thr | p.S450S | p.Q328Q | |||||
| PD | p.Arg184Cys | p.Ile562Thr | p.S450S | p.Q328Q | |||||
| PD | p.Ile562Thr | p.S450S | p.Q328Q | ||||||
| PD | c.-148 T>C | p.Ala21Pro | p.Asp248Asn | p.A14A/G25G | p.Q328Q | ||||
| PD | p.Ile562Thr | p.S450S | p.Ile562Thr | p.S450S | |||||
| PD | p.Q328Q | p.Q328Q | |||||||
| PD | c.-287 G>A | p.Ile562Thr | p.S450S | p.Ile562Thr | p.S450S | ||||
| PD | p.Arg184Cys | p.Ile562Thr | p.Phe596Ser | p.S450S | p.Arg184Cys | p.Ile562Thr | p.S450S | ||
| PD | c.-287 G>A | p.Trp132* | c.-287 G>A | p.Q328Q | |||||
| PD | p.Q328Q | p.Q328Q | |||||||
| PD | c.-148 T>C | p.Ala21Pro | p.Asp248Asn | p.A14A/G25G | p.Ile562Thr | p.S450S | |||
| PD | p.Ile562Thr | p.S450S | p.Ile562Thr | p.S450S | |||||
| PD | p.Ile562Thr | p.S450S | p.Q328Q | ||||||
| PD | c.-287 G>A | p.Ile562Thr | p.D110D | p.Q328Q | |||||
| PD | c.-287 G>A | p.Ile562Thr | p.D110D | p.Q328Q | |||||
| PD | p.Ile562Thr | p.S450S | p.Q328Q | ||||||
| Control | p.Q328Q | p.Q328Q | |||||||
| Control | p.Arg184Cys | p.Ile562Thr | p.S450S | p.Q328Q | |||||
| Control | c.-148 T>C | p.Ala21Pro | p.Asp248Asn | p.A14A/G25G | c.-287 G>A | p.Ile562Thr | p.S450S | ||
| Control | p.Ile562Thr | p.S450S | p.Ile562Thr | p.S450S | |||||
| Control | p.Ile562Thr | p.S450S | p.Q328Q | ||||||
| Control | c.-148 T>C | p.Ala21Pro | p.Asp248Asn | p.A14A/G25G | p.Ile562Thr | p.S450S | |||
| Control | p.Ile562Thr | p.S450S | p.Q328Q | ||||||
| Control | p.Arg184Cys | p.Ile562Thr | p.S450S | p.Q328Q | |||||
| Control | c.-287 G>A | p.Ile562Thr | p.S450S | p.Ile562Thr | p.S450S | ||||
| Control | c.-148 T>C | p.Ala21Pro | p.Asp248Asn | p.A14A/G25G | p.Ile562Thr | p.S450S | |||
| Control | p.Ile562Thr | p.S450S | p.Ile562Thr | p.S450S | |||||
| Control | c.-287 G>A | p.Ile562Thr | p.Q328Q | ||||||
| Control | c.-287 G>A | p.Ile562Thr | |||||||
| Control | p.Arg184Cys | p.Ile562Thr | p.S450S | p.Arg184Cys | p.Ile562Thr | p.S450S | |||
| Control | p.Ile562Thr | p.S450S | p.Ile562Thr | p.S450S | |||||
| Control | p.Ile562Thr | p.S450S | p.Ile562Thr | p.S450S | |||||
| Control | c.-287 G>A | p.L5L/L133L | p.Ile562Thr | p.S450S | |||||
| Control | p.Arg184Cys | p.Ile562Thr | p.S450S | p.Q328Q | |||||
| Control | c.-148 T>C | p.Ala21Pro | p.Asp248Asn | p.A14A/G25G | p.Q328Q | ||||
| Control | p.Ile562Thr | p.S450S | p.Q328Q | ||||||
| Control | c.-148 T>C | p.Ala21Pro | p.Asp248Asn | p.A14A/G25G | p.Ile562Thr | p.S450S | |||
| Control | c.-148 T>C | p.Ala21Pro | p.Asp248Asn | p.A14A/G25G | p.Ile562Thr | p.S450S | |||
| Control | c.-148 T>C | p.Ala21Pro | p.Asp248Asn | p.A14A/G25G | p.Ile562Thr | p.S450S | |||
| Control | c.-148 T>C | p.Ala21Pro | p.Asp248Asn | p.A14A/G25G | p.Ile562Thr | p.S450S | |||
| Control | c.-148 T>C | p.Ala21Pro | p.Asp248Asn | p.Thr112Ala | p.A14A/G25G | c.-148 T>C | p.Ala21Pro | p.Asp248Asn | p.A14A/G25G |
| Control | p.Q328Q | p.Q328Q | |||||||
| Control | p.Ile562Thr | p.S450S | p.Q328Q | ||||||
| Control | c.329 -8_10 del | p.Ile562Thr | p.S450S | p.Q328Q | |||||
| Control | c.-148 T>C | p.Ala21Pro | p.Asp248Asn | p.A14A/G25G | p.Ile562Thr | p.S450S | |||
| Control | p.Ile562Thr | p.S450S | p.Q328Q | ||||||
| KD | c.-148 T>C | p.Ala21Pro | p.Asp248Asn | p.A14A/G25G | p.Arg184Cys | g.30 Kb del | |||
| KD | p.Arg184Cys | g.30 Kb del | p.Arg184Cys | g.30 Kb del | |||||
| KD | c.-148 T>C | p.Asp248Asn | p.Thr529Met | p.A14A/G25G | p.Tyr173Leu | p.Q328Q | |||
| KD Late-onset | p.Ser23* | p.Arg184Cys | p.Ile562Thr | p.S450S | p.Met117Leu | p.Ile562Thr | p.S450S | ||
| Control Infant | c.1834+5 G>C | p.Ala641Thr | p.L359L/T540T/V556V | p.Ile562Thr | p.S450S | ||||
DNA was extracted from tissues of Alzheimer’s, Parkinson’s, Krabbe, and healthy diagnosed patients. DNA was sequenced for SNPs present in GALC, which are listed in the table for each patient. GALC mutations causing severely diminished activity are listed in bold, which were confirmed in all Krabbe patients. An additional 4 patients were identified as carriers (heterozygous) for severe/mild mutations to GALC, 2 within patient diagnosed with Parkinson’s, and 2 within patients diagnosed without any neurological disorder.