Table 1 Summary of clinical information and mutations identified in Japanese patients with Krabbe disease

From: Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype–phenotype correlation

Patient no. Genotype Phenotype Age at onset GALC activity CSF protein (mg dL−1) MCV (m s−1) Refs.
Lymphocytes (nmol mg−1 h−1) Skin fibroblasts (nmol mg−1 h−1)
A1b W115X/P302Aa Infantile 6 months Not described Not described ND ND Tatsumi et al. (1995)
A2 R204X/12Del3Insa Infantile <6 months Not described Not described ND ND Tatsumi et al. (1995)
A3 R204X/I234T Infantile <6 months 0.08 ND ND ND  
A4 L364R/T652P Infantile 5 months 0 0.1 81 Undetectable  
A5 12Del3Ins/– Infantile 6 months ND 0.27 ND ND  
A6 T652P/T652P Infantile 4 months 0.07 0.3 244 Undetectable  
A7 12Del3Ins/T652P Infantile 6 months 0.1 ND 169 ND  
A8 393delT/– Infantile 4 months 0 ND 185 12  
A9 S257F/– Infantile 6 months 0.3 0.4 236 18  
A10 P302A/L618S Late-infantile 8 months 0 0.3 119 25  
A11 G270D/R515H Late-infantile 2 years 0.03 0.08 71 50  
A12 I66M+I289V/12Del3Ins Juvenile 5 years 0.09 0.14 95 24  
A13 I66M+I289V /W647Xa Juvenile 3 years 0.6 ND 124 Low Fu et al. (1999)
A14 I66M+I289V/1719-1720insT Juvenile 3.5 years 0.09 0.23 75 Low  
A15 12Del3Ins/– Juvenile 3.5 years 0.12 0.5 34 ND  
A16 G270D/G270D Adult 69 years 0.2 0.8 ND ND  
A17 I66M+I289V/I66M+I289V Adult 59 years 0.29 0.23 51 17  
Patient no. Genotype Phenotype Age at onset CSF protein (mg dL−1) MCV (m s−1) Refs.
B1 12Del3Ins/12Del3Ins Infantile 4 months ND ND Tatsumi et al. (1995)
B2 12Del3Ins/12Del3Ins Infantile 3 months 106 Low Tatsumi et al. (1995)
B3 S52F/W410G Infantile <6 months ND ND Fu et al. (1999)
B4 12Del3ins/T652P Infantile 4 months ND 13–18 Fu et al. (1999)
B5 R515H/R515H Infantile 5 months 80 Low Fu et al. (1999)
B6 T262I/12Del3Ins Infantile 1 years 42 36 Fu et al. (1999)
B7 G270D/G270D Adult 10–20 years Not described Not described Furuya et al. ( 1997)
B8 I66M+I289V/I66M+I289V Adult 10–20 years Not described Not described Furuya et al. (1997), Kukita et al. (1997-98)
B9 I66M+I289V/Y354X Adult 10–20 years Not described Not described Furuya et al. (1997), Kukita et al. (1997-98)
B10 L618S/IVS6+5G>A Adult 10–20 years Not described Not described Furuya et al. (1997), Kukita et al. (1997-98)
B11 L618S/L618S Adult 51 years Not described Not described Satoh et al. (1997)
  1. Bold print in Genotype column denotes a novel mutation identified in this study
  2. Normal ranges of GALC activity in lymphocytes and skin fibroblasts are 2.1±0.29 and 4.5±1.2 nmol mg−1 h−1, respectively
  3. “A” in patient no. column represents the subjects investigated in this study; “B” in patient no. column represents subjects reported previously
  4. “–” in the Genotype column indicates no mutation was found in the second allele in our experiment
  5. CSF cerebrospinal fluid, MCV motor nerve conduction velocity, ND not done
  6. aPreviously detected mutant allele
  7. bThe patient was previously reported as late-infantile type. This has, however, been corrected to infantile type on the basis of detailed clinical information