Clinical manifestation of patients with NIID
| Total (n=247) | Clinical phenotype | ||||
| Dementia-dominant type (n=94) | Movement disorder-dominant type (n=63) | Muscle weakness-dominant type (n=29) | Paroxysmal symptom-dominant type (n=61) | ||
| Sex ratio (male/female) | 115/132 | 38/56 | 27/36 | 23/6 | 27/34 |
| Family history | 98/247 (39.7%) | 37/94 (39.4%) | 27/63 (42.9%) | 25/29 (86.2%) | 9/61 (14.8%) |
| Age at onset, years, median (IQR) | 59 (50.00–63.00) | 60 (54.50–63.00) | 59 (54.00–63.00) | 35 (30.00–48.50) | 60 (52.50–66.00) |
| Age at diagnosis, years, median (IQR) | 65 (59.00–69.00) | 65 (62.00–70.00) | 65 (59.00–70.00) | 51 (42.50–62.50) | 64 (59.50–68.00) |
| Disease duration, years, median (IQR) | 5 (2.00–10.00) | 7 (3.00–10.25) | 5 (3.00–10.00) | 9 (3.00–18.00) | 3 (0.00–6.50) |
| Cognitive impairment | 122/247 (49.4%) | 93/94 (98.9%) | 27/63 (42.9%) | 2/29 (6.9%) | 0/61 (0.0%) |
| Abnormal behaviour | 39/247 (15.8%) | 31/94 (33.0%) | 4/63 (6.3%) | 4/29 (13.8%) | 0/61 (0.0%) |
| Muscle weakness | 76/247 (30.8%) | 19/94 (20.2%) | 25/63 (39.7%) | 28/29 (96.6%) | 4/61 (6.6%) |
| Bulbar paralysis | 51/235 (21.7%) | 11/86 (12.8%) | 20/61 (32.8%) | 16/29 (55.2%) | 5/59 (6.8%) |
| Limb weakness | 54/246 (22.0%) | 12/93 (12.9%) | 13/63 (20.6%) | 28/29 (96.6%) | 1/61 (1.6%) |
| Sensory disturbance | 36/244 (14.8%) | 9/93 (9.7%) | 13/63 (20.6%) | 7/27 (25.9%) | 7/61 (11.5%) |
| Movement disorder | 124/247 (50.2%) | 41/94 (43.6%) | 63/63 (100.0%) | 20/29 (69.0%) | 0/61 (0.0%) |
| Tremor | 87/247 (35.2%) | 19/94 (20.2%) | 51/63 (81.0%) | 17/29 (58.6%) | 0/61 (0.0%) |
| Rigidity | 38/247 (15.4%) | 11/94 (11.7%) | 26/63 (41.3%) | 1/29 (3.4%) | 0/61 (0.0%) |
| Bradykinesia | 62/247 (25.1%) | 22/94 (23.4%) | 37/63 (58.7%) | 3/29 (10.3%) | 0/61 (0.0%) |
| Ataxia | 38/247 (15.4%) | 19/94 (20.2%) | 15/63 (23.8%) | 4/29 (13.9%) | 0/61 (0.0%) |
| Paroxysmal symptom | 165/247 (66.8%) | 69/94 (73.4%) | 28/63 (44.4%) | 7/29 (24.1%) | 61/61 (100.0%) |
| Disturbance of consciousness | 88/247 (35.6%) | 45/94 (47.9%) | 14/63 (22.2%) | 6/29 (20.7%) | 23/61 (37.7%) |
| Encephalitic episodes | 58/247 (23.5%) | 29/94 (30.9%) | 7/63 (11.1%) | 2/29 (6.9%) | 20/61 (32.8%) |
| Stroke-like episodes | 88/247 (35.6%) | 34/94 (36.2%) | 16/63 (25.4%) | 3/29 (10.3%) | 35/61 (57.4%) |
| Generalised convulsions | 14/247 (5.7%) | 7/94 (7.4%) | 1/63 (1.6%) | 0/29 (0.0%) | 6/61 (9.8%) |
| Chronic headache | 27/247 (10.9%) | 12/94 (12.8%) | 4/63 (6.3%) | 0/29 (0.0%) | 11/61 (18.0%) |
| Autonomic dysfunction | 158/247 (64.0%) | 66/94 (70.2%) | 38/63 (60.3%) | 12/29 (41.4%) | 42/61 (68.9%) |
| Bladder dysfunction | 119/246 (48.4%) | 54/93 (58.1%) | 31/63 (49.2%) | 9/29 (31.0%) | 25/61 (41.0%) |
| Miosis | 49/236 (20.8%) | 23/88 (26.1%) | 4/62 (6.5%) | 3/25 (12.0%) | 19/61 (31.1%) |
| Orthostatic hypotension | 33/244 (13.5%) | 14/91 (15.4%) | 9/63 (14.3%) | 1/29 (3.4%) | 9/61 (14.8%) |
| Emesis | 36/247 (14.6%) | 10/94 (10.6%) | 10/63 (15.9%) | 2/29 (6.9%) | 14/61 (23.0%) |
| Visual loss | 50/247 (20.2%) | 23/94 (24.5%) | 19/63 (30.2%) | 0/29 (0.0%) | 8/61 (13.1%) |
NIID, neuronal intranuclear inclusion disease .