Table 1 Clinical features of patients with pure FGF14 expansions compared to a previously unreported FGF14 nonsense variant (SCA27A) and SCA27B-negative Patients
From: Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions
FGF14 AAG expansion negative | FGF14 AAG expansion exp ≥ 250 | Adjusted p-value | FGF14 AAG expansion 180 ≤ exp < 250 | FGF14 AAG expansion 250 ≤ exp < 300 | FGF14 AAG expansion exp ≥ 300 | FGF14 truncating p.Leu80* | |
|---|---|---|---|---|---|---|---|
(n = 98) | (n = 42) | (n = 13) | (n = 11) | (n = 31) | (n = 2) | ||
female sex - no. (%) | 49 (50) | 22 (52) | 0.8547 | 5 (38) | 5 (45) | 17 (55) | 1 (50) |
age at onset, years (min-max) | 46.1 (1–82) | 51.9 (21–76) | 0.14 | 55.5 (9–77) | 57.2 (34–76) | 50.0 (21–75) | 20.5 (5–36) |
age at last examination, years (min-max) | 60.6 (14–91) | 66.3 (27–85) | 0.0128 | 67.7 (49–85) | 68.0 (38–85) | 65.7 (27–85) | 60 |
disease duration, years (min-max) | 14.6 (1–55) | 14.4 (2–34) | 0.475 | 12.3 (2–40) | 10.8 (3–30) | 15.7 (2–34) | 24 |
Symptoms at first examination | |||||||
impaired gait (%) | 90/98 (92) | 37/42 (88) | 1 | 12/13 (92) | 9/11 (82) | 28/31 (90) | 1/1 |
impaired stand (%) | 83/95 (87) | 22/42 (52) | 1.19E-04 | 9/13 (69) | 8/11 (73) | 14/31 (45) | 1/1 |
cerebellar oculomotor signs (%) | 62/98 (63) | 40/42 (95) | 2.99E-04 | 8/13 (62) | 11/11 (100) | 29/31 (94) | 1/1 |
- downbeat-nystagmus (%) | 3/98 (3) | 21/42 (50) | 7.91E-10 | 4/13 (31) | 6/11 (55) | 15/31 (48) | - |
dysarthria (%) | 59/95 (62) | 9/42 (21) | 8.55E-05 | 6/13 (46) | 3/11 (27) | 6/31 (19) | - |
cognitive impairment, according to examiner (%) | 30/75 (40) | 5/42 (12) | 8.85E-03 | 3/13 (23) | 1/11 (9) | 4/31 (13) | - |
Symptoms at last examination | |||||||
impaired balance and gait (%) | 95/98 (97) | 42/42 (100) | 1 | 12/13 (92) | 11/11 (100) | 31/31 (100) | 1/1 |
cerebellar oculomotor signs (%) | 85/98 (87) | 40/42 (95) | 1 | 12/13 (92) | 10/11 (91) | 30/31 (97) | 1/1 |
- downbeat-nystagmus (%) | 6/98 (6) | 21/42 (50) | 6.53E-08 | 4/13 (31) | 5/11 (45) | 16/31 (52) | 1/1 |
dysarthria (%) | 67/98 (68) | 16/41 (39) | 0.013 | 6/13 (46) | 6/11 (55) | 10/30 (33) | - |
cognitive impairment (according to examiner) (%) | 59/83 (71) | 16/41 (39) | 0.005 | 7/12 (58) | 3/10 (30) | 13/31 (42) | 1/1 |
pallhypesthesia (Rydel-Seiffer <6/8) (%) | 45/81 (56) | 16/35 (46) | 1 | 6/10 (60) | 6/10 (60) | 10/25 (40) | - |
Selected symptoms/features in medical history | |||||||
episodic symptoms (any) (%) | 10/18 (56) | 25/27 (93) | 0.032 | 4/8 (50) | 8/8 (100) | 17/19 (89) | 1/1 |
autonomic signs (any) (%) | 40/77 (52) | 11/37 (30) | 0.114 | 6/11 (55) | 4/10 (40) | 7/27 (26) | - |
migraine (%) | - | 12/24 (50) | 1 | 2/9 (22) | 4/8 (50) | 8/16 (50) | - |
seizures/epilepsy (%) | 6/24 (25) | 3/28 (11) | 1 | 6/24 (25) | 1/8 (12) | 2/20 (10) | - |
