TABLE 2.
Clinical and diagnostic features of the FGF14 repeat expansion carriers
| Patient ID | SCN 412 | SCN 352 | SCN 88 | HSP 185 | SCN 486 | SCN 46 | SCN 400 | FAN 46 | SCN 305 |
|---|---|---|---|---|---|---|---|---|---|
| Family history | No | No | Yes | Yes | Yes | No | No | Yes | No |
| Sex | F | M | F | F | F | M | M | F | M |
| AAO | 53 | 56 | 54 | 35 | 36 | 54 | 66 | 27 | 18 |
| AAE | 69 | 57 | 59 | 43 | 46 | 66 | 74 | 33 | 35 |
| DD | 16 | 1 | 5 | 8 | 10 | 12 | 8 | 6 | 17 |
| First symptoms | Episodic vertigo and nausea | Instability | Instability | Incoordination with hands, episodic vertigo | Instability | Instability | Instability | Instability | Episodic vertigo and nausea |
| Cough | No | No | No | No | No | No | No | No | No |
| Gait ataxia | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
| Walk assistance | Yes | No | No | No | No | Yes (walker) | Yes (walker) | No | No |
| Limb ataxia | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
| Dysarthria | Yes | Yes | Yes | No | Yes | No | Yes | Yes | Yes |
| Oculomotor findings | ISP, DBN | GEN | DBN | Normal | GEN, skew deviation, ISP | DBN | GEN, slow saccades | GEN, ISP | Normal |
| Vestibulo‐pathy | N/a | N/a | N/a | No | No | N/a | N/a | N/a | N/a |
| Spasticity | No | No | No | No | No | No | No | No | No |
| DTR | Absent on the LL | Normal | Normal | Increased on UL and LL | Increased | Decreased on the LL | Normal | Increased patellar reflex, absent achillis reflex | Normal |
| Extensor plantar response | No | No | No | No | No | No | No | Yes | No |
| Other | Head tremor, distal hypo‐trophy, tremor of hands and legs, inconti‐nence | Tremor of the right hand, distal hypo‐trophy | Inter‐mittent tremor of the head and hands, urinary urgency | Muscle weakness of LL decreased vibrational sense, dysphagia, inconti‐nence, headache | Tremor of the hands | Diplopia, hypo‐trophy of the LL and weakness | Positional vertigo | N/a | N/a |
| MRI findings | Marked global atrophy | Marked global atrophy (more severe on the left side) | Marked global atrophy | Mild global atrophy | Normal | Frontal and cerebellar atrophy | Marked global atrophy | Moderate global atrophy | Normal |
| Neuropathy (NCS) | No | Yes | No | No | No | Yes | No | Yes | No |
| Number of repeats | 480 | 330 | 280 | 300 | 400 | 350 | 270 | 450 | 280 |
Abbreviations: AAO, age at onset (in years); AAE, age at examination (in years); DD, disease duration (in years); ISP, impaired smooth pursuit; DBN, downbeat nystagmus; DTR, deep tendon reflexes; GEN, gaze‐evoked nystagmus; LL, lower limbs; NA, not assessed; NCS, nerve conductions studies; MRI, magnetic resonance imaging; UL, upper limbs.