Clinical features of the present patients and previously published cases with the p.116* homozygous mutation
| This study | Tucci et al14 | ||||
|---|---|---|---|---|---|
| Subjects | II-3 | II-4 | Case 1 | Case 2† | Case 3‡ |
| Sex | Female | Female | Male | Male | Female |
| Age of onset | 6 months | 6 months | 8 years | NA | 9 years |
| Diagnosis | LS | LS | CMT type 6 | CMT type 6 | CMT type 6 |
| Ethnic group | Indian-Jewish | Indian-Jewish | Indian | Indian | Indian |
| Consanguinity | + | + | + | + | + |
| Optic atrophy | +(bilateral) | +(bilateral) | +(bilateral) | + | +(bilateral) |
| Ophthalmoplegia | + | + | NA | NA | NA |
| Delayed milestones | + | + | NA | NA | + |
| Cognitive impairment | + | + | − | − | +? |
| Muscle weakness | +(lower limbs) | +(lower limbs) | +(upper and lower limbs) | NA | +(upper and lower limbs) |
| Spastic paraparesis | + | + | NA | NA | NA |
| Pathological reflexes | + | + | NA | NA | + |
| Axonal neuropathy | − | − | + | NA | + |
| Abnormal brain MRI | +§ | +§ | NA | NA | NA |
| High lactate | + | + | NA | NA | NA |
| Mitochondrial function | cI-III: normal cIV: decreased cV: normal | cI-III: normal cIV: decreased cV: normal | NA | NA | cI-IV: NA cV: decreased |
| Other features | Ovarian failure Hydronephrosis | Ovarian failure | NA | NA | Thoracic scoliosis |
†Case 2 is the affected brother of case 1.
‡Case 3 is the affected cousin of case 1.
§Symmetric high-intensity T2 signal in the brainstem.
cI−V, mitochondrial respiratory complexes I−V; NA, not assessed.