Table 2. Overview of clinical findings in families with dominant GDAP1 mutations identified in this study.
| Mutation and family |
Ethnicity | Diagnosis | AAO | No. of affected |
No. of asymptomatic mutation carriers |
Remarks |
|---|---|---|---|---|---|---|
| Arg120Trp | ||||||
| CMT-1057 | Italian | CMT2 | 20 y | 4 | – | – |
| CMT-1121 | Austrian | CMT2 | 10-45 y | 2 | – | Proximal weakness in UL/LL in patient CMT-1121.01 |
| CMT-1130 | American (Ashkenazi Jewish) |
CMT2 | Childhood | 1 | 1 | Proximal weakness LL in patient CMT-1130.03 |
| His123Arg | ||||||
| CMT-129 | Finnish | CMT2 | 3 to > 32 y | 3 | 4 | Proximal weakness LL in patient CMT-129.07 |
| CMT-1060 | Tunisian | CMT-INT | Childhood | 1 | – | Delayed early motor milestones (independent gait at 24 mo), severely affected |
| Ala156Gly | ||||||
| CMT-1123 | Polish | CMT2 | 8-13 y | 4 | – | Cardiac arrhythmia cosegregating in family |
| CMT-1124 | Polish | CMT2 | 13-18 y | 2 | 1 | – |
| Pro274Leu | ||||||
| CMT-1058 | Italian | CMT-INT, CMT2 |
47 y | 3 | – | Fast disease progression, wheelchair-bound at 61 y (CMT-1058.01); CMT-1058.02 clinically normal, electrophysiology: clear axonal neuropathy |
Abbreviations: AAO = age at onset; INT = intermediate; LL = lower limb; UL = upper limb.