Table 1.
Synopsis of demographic, clinical and neuroimaging findings in HSP-ZFYVE26 (SPG15) in the present cohort and in previously reported patients
| This cohort (n = 44)a | Previously reported cases (n = 65) | |
|---|---|---|
| Demographic data | ||
| Sex (male: female) | 34:10 (77%:23%); n = 44 | 26:30 (46%:54%); n = 56 |
| Ethnicity/Origin | European: 66% (29/44) | European: 36% (17/48) |
| Middle Eastern: 14% (6/44, 4 Turkish, 2 Arab) | Middle Eastern: 19% (9/44, 4 Turkish, 4 Arab, 1 Iranian) | |
| East Asian: 11% (5/44) | East Asian: 10% (5/48) | |
| North African: 5% (2/44) | North African: 29% (14/48) | |
| Indian subcontinent: 2% (1/44) | Indian subcontinent: 4% (2/48) | |
| Hispanic 2% (1/44) | Hispanic: 2% (1/48) | |
| Consanguinity | 34% (12/35, NA = 1) | 35% (23/65) |
| Development and cognitive symptoms | ||
| Developmental delay | 68% (25/37, NA = 7) | 11% (7/65) |
| Delayed speech development | 64% (23/36, NA = 8) | 3% (2/65) |
| Delayed motor development | 21% (7/33, NA = 11) | 2% (1/65) |
| Cognitive impairment | 89% (34/38, NA = 6) | 62% (40/65) |
| Progressive cognitive decline | 69% (25/35, NA = 9) | 23% (15/65) |
| Motor symptoms | ||
| Spasticity | Lower limbs: 98% (43/44) | Lower limbs: 65% (42/65) |
| Upper limbs: 64% (28/44) | Upper limbs: 22% (14/65) | |
| Muscle wasting | Lower limbs: 23% (10/44) | Lower limbs: 31% (20/65) |
| Upper limbs: 16% (7/44) | Upper limbs: 9% (6/65) | |
| Pyramidal signs | 98% (43/44) | 82% (53/65) |
| Contractures | 30% (11/37, NA = 7) | 2% (1/65) |
| Ataxia | 64% (28/44) | 8% (5/65) |
| Dysarthria | 68% (30/44) | 42% (27/65) |
| Nystagmus | 27% (12/44) | 18% (12/65) |
| Dystonia | 11% (5/44) | 5% (3/65) |
| Postural tremor | 18% (8/44) | 11% (7/65) |
| Parkinsonism | 16% (7/44) | 8% (5/65) |
| Level of ambulation | I: 9% (4/43, NA = 1) | I: 6% (3/48) |
| II: 30% (13/43, NA = 1) | II: 13% (6/48) | |
| III: 28% (12/43, NA = 1) | III: 33% (16/48) | |
| IV: 33% (14/43, NA = 1) | IV: 48% (23/48) | |
| Musculoskeletal symptoms | ||
| Foot deformity | 28% (11/39, NA = 5) | 22% (14/65) |
| Scoliosis | 21% (7/34, NA = 10) | 9% (6/65) |
| Peripheral and autonomic symptoms | ||
| Peripheral polyneuropathy | 38% (10/26, NA = 18) | 46% (30/65) |
| Urinary urgency/incontinence | 54% (22/41, NA = 3) | 26% (17/65) |
| Ocular and auditory symptoms | ||
| Retinopathy | 11% (4/35, NA = 9) | 18% (12/65) |
| Hearing impairment | 0% (0/37, NA = 7) | 2% (1/65) |
| Brain MRI findings | ||
| Thin corpus callosum | 100% (33/33) | 54% (35/65) |
| ‘Ears of the lynx’ sign | 76% (16/21, NA = 12) | 12% (8/65) |
| Periventricular white matter abnormalities | 94% (30/32, NA = 1) | 42% (27/65) |
| Cerebral atrophy | 34% (11/32, NA = 1) | 23% (15/65) |
| Cerebellar atrophy | 34% (11/32, NA = 1) | NA |
| Rating scale | ||
| SPRS score | 25.2 ± 13.3 (range 4–48, n = 28) | 22.5 ± 9.7 (range 8–28, n = 4) |