Table 1.
Characteristics of the GAA-FGF14-positive and GAA-FGF14-negative patients
| GAA-FGF14-positive (n=17)* |
GAA-FGF14-negative (n=28)† |
|
| Male sex—no. (%) | 13 (76) | 13 (46) |
| Triplet repeat count of the larger allele | 343 (258–637) | 62 (8–247) |
| Age at disease onset—years | 63 (28–78) | 60 (15–80) |
| Age at onset of gait ataxia—years | 63 (37–78) | 61 (30–80) |
| Disease duration—years | 14 (4–24) | 8 (2–56) |
| Age at last examination—years | 77 (44–86) | 77 (49–91) |
| Positive family history—no./total no. (%) | 10/17 (59) | 4/26 (15) |
| Presenting symptoms at disease onset—no. (%)‡ | ||
| Gait unsteadiness | 14 (82) | 26 (93) |
| Vertigo or dizziness | 7 (41) | 5 (18) |
| Visual disturbances (diplopia, oscillopsia, blurring) | 3 (18) | 1 (4) |
| Episodic dysarthria | 3 (18) | 0 (0) |
| Sensory symptoms | 0 (0) | 2 (7) |
| Phenotypic classification—no. (%) | ||
| Cerebellar ataxia plus polyneuropathy | 5 (29) | 8 (29) |
| Cerebellar ataxia plus bilateral vestibulopathy | 9 (52) | 12 (43) |
| Cerebellar ataxia plus polyneuropathy and bilateral vestibulopathy | 3 (18) | 8 (29) |
| Ancillary tests—no. (%) | ||
| Brain MRI | 13 (76) | 24 (86) |
| Nerve conduction studies | 15 (88) | 21 (75) |
| Video head impulse test | 8 (47) | 13 (46) |
Unless specified, data are reported as median (range).
*Data on vestibular system function were missing for one patient.
†Data on vestibular system function were missing for five patients.
‡Patients may present with multiple symptoms at disease onset.
FGF14, fibroblast growth factor 14 gene.