Table 1.

Characteristics of Patients with GAA-FGF14–Related Ataxia.^*

Characteristic	French Canadian (N = 68)†	German (N = 48)‡	Australian (N = 3)	Indian (N = 3)	Overall (N = 122)
Male sex — no. (%)	32 (47)	24 (50)	3 (100)	3 (100)	62 (51)
Inheritance — no./total no. (%)
Sporadic	10/68 (15)	22/44 (50)	2/3 (67)	2/3 (67)	36/118 (31)
Familial	58/68 (85)	22/44 (50)	1/3 (33)	1/3 (33)	82/118 (69)
Episodic features — no./total no. (%)	47/67 (70)	6/48 (12)	1/3 (33)	2/3 (67)	56/121 (46)
Mean age at onset of episodes — yr	54±14	62±7	48	67	55±13
Mean age at onset of permanent ataxia — yr	59±12	60±11	57±11	62±9	59±11
Signs and symptoms — no./total no. (%)
Nystagmus
Downbeat nystagmus	43/65 (66)	5/48 (10)	0/3 (0)	2/3 (67)	50/119 (42)
Gaze-evoked horizontal nystagmus	37/65 (57)	25/48 (52)	2/3 (67)	1/3 (33)	65/119 (55)
Diplopia or visual blurring	39/66 (59)	16/48 (33)	0/3 (0)	2/3 (67)	57/120 (48)
Cerebellar dysarthria	39/68 (57)	21/44 (48)	2/3 (67)	1/3 (33)	63/118 (53)
Gait ataxia	65/68 (96)	42/44 (95)	3/3 (100)	3/3 (100)	113/118 (96)
Appendicular ataxia	62/68 (91)	27/44 (61)	3/3 (100)	2/3 (67)	94/118 (80)
Vertigo or dizziness	21/64 (33)	10/44 (23)	0/3 (0)	2/3 (67)	33/114 (29)
Postural tremor	6/60 (10)	11/48 (23)	0/3 (0)	1/3 (33)	18/114 (16)
Cerebellar atrophy on MRI — no./total no. (%)	28/44 (64)	34/41 (83)	2/3 (67)	3/3 (100)	67/91 (74)

^*Plus–minus values are means ±SD. Clinical data from 122 of the 128 patients with GAA-FGF14–related ataxia are included. Six patients (2 male and 4 female) were excluded because clinical data of sufficient quality were not available. MRI denotes magnetic resonance imaging.

^†Data on age at onset of episodes of ataxia were missing for 2 patients, and data on age at onset of permanent ataxia were missing for 2 patients.

^‡Data on age at onset of permanent ataxia were missing for 2 patients.