Table.
Clinical Characteristics of Genetically Confirmed MFN2 Leu146Phe Neuropathy
| Pedigree | Sex/Age, y | Clinical Summary | Age at Onset of Symptoms, y | Optic Atrophy | Involvement of Central Nervous System | Wheelchair Required; Age, y |
|---|---|---|---|---|---|---|
| VI-3 | M/64 | Early-onset, rapid, severe motor and sensory | 3 | No | No | Yes; 30 |
| VI-7 | F/52 | Late-onset, mild, sensory predominant | 45 | No | No | No |
| VI-8 | M/50 | Late-onset, mild, sensory predominant | 40 | No | No | No |
| VI-9 | M/45 | Vision loss, mild, sensory motor neuropathy | 38 | Yes | Yesa | No |
| VI-10 | F/43 | Vision loss, mild, sensory motor neuropathy; initially diagnosed as multiple sclerosisb | 27 | Yes | Yes | No |
| V-3 | M/41 | Late-onset sensory motor loss in feet | 25 | No | No | No |
| V-7 | M/42 | Early-onset, rapid, severe motor and sensory | 1 | No | No | Yes; 40 |
| V-17 | F/70 | Early-onset, gradually progressive | 7 | No | No | Yes; 43 |
| V-18 | F/72 | Late-onset, motor and sensory | 40 | No | No | Yes; 60 |
| IV-8 | M/69 | Late-onset, motor and sensory | 20 | No | No | No |
a
Tibial somatosensory–evoked potentials demonstrated conduction slowing in the spinal cord (see the “VI-10” subsection in the “Results” section).
b
Magnetic resonance image of brain shown in Figure 2.