Table 1.
Clinical and genetic information of patients with RFC1 mutations.
| Patient# | 1 | 2 | 3 | 4 |
|---|---|---|---|---|
| Clinical phenotype | GBS | ISAN | MAGN | SAN |
| Clinical course | Monophasic | Recurrent and remission | Slowly progressive | Slowly progressive |
| RFC1 mutation | AAGGG biallelic | ACAGG biallelic | ACAGG/AAGGG | ACAGG biallelic |
| Age at recent examination | 74 | 75 | 79 | 80 |
| Age at onset | 74 | 64 | 56 | 76 |
| Sex | F | F | M | F |
| Autoantibody | Anti-ganglioside (IgG GQ1b, GT1a, GD1b, and GT1b) | RF (IgM anti-IgG) | IgM anti-MAG | – |
| Motor deficit | + + | + | – | + |
| Sensory disturbances | + | + + | + + | + + |
| Autonomic disturbances | – | – | – | + + + |
| NCS | Unclassified | Axonal change + Possible demyelination at later stage | Possible demyelination | Axonal change |
| Sural nerve biopsy | nd | Demyelination§ | nd | Axonal change with Schwann cell abnormalities |
| Treatment§§ | 1 × IVIG | 8 × IVIG | 12 × Rituximab (375 mg/m2) | 2 × IVMP + 1 × IVIG |
| Response to immunotherapy | Good | Mild | Moderate | None |
| Outcome | Complete resolution of motor deficit, but mild dysesthesia remained | Subjective and objective improvement after each IVIG | Suppression of IgM levels and of symptom progression | Almost bedridden with percutaneous gastrostomy |
NCS nerve conduction study, GBS Guillain Barré syndrome, ISAN idiopathic sensory ataxic neuropathy with mild motor deficit, MAGN Myelin-associated glycoprotein neuropathy, SAN sensory autonomic neuropathy with mild motor deficit, RF rheumatoid factor, –, absent; + , mild; + + , moderate; + + + , severe; nd not done, IVMP intravenous methylprednisolone therapy (1 g/day for 3 days), IVIG intravenous immunoglobulin therapy (0.4 g/kg/day for 5 days).
§Data was available only from her medical record, §§x means # of cycles of the treatment.