Table 1.
Summary of Clinical Features of NIID
| Sporadic Case Subjects (n = 5) |
Familial Case Subjects |
||||
|---|---|---|---|---|---|
| Total (n = 40) | Muscle Weakness (n = 15) | Parkinsonism (n = 9) | Dementia (n = 16) | ||
| Sex ratio (male/female) | 2/3 | 26/14 | 12/3 | 8/1 | 6/10 |
| Average onset age (range) | 62.0 (51–69) | 50.6 (30–78) | 35.6 (30–54) | 60.6 (37–78) | 58.1 (31–71) |
| Average disease duration (range) | 5.6 (1–14) | 12.5 (1–49) | 16.6 (3–49) | 6.0 (1–15) | 12.4 (2–30) |
| Clinical Manifestations | |||||
| Dementia | 2/5 (40.0%) | 14/40 (35.0%) | 0/15 (0%) | 0/9 (0%) | 14/16 (87.5%) |
| Abnormal behavior | 2/5 (40.0%) | 15/40 (37.5%) | 2/15 (13.3%) | 0/9 (0%) | 13/16 (81.3%) |
| Peripheral neuropathy | |||||
| Muscle weakness | 0/5 (0%) | 18/39 (46.2%) | 13/15 (86.7%) | 1/9 (11.1%) | 4/15 (26.7%) |
| Sensory disturbance | 0/5 (0%) | 13/37 (35.1%) | 4/13 (30.8%) | 4/9 (44.4%) | 5/15 (33.3%) |
| Autonomic dysfunction | |||||
| Bladder dysfunction | 3/5 (60.0%) | 22/39 (56.4%) | 5/15 (33.3%) | 5/9 (55.6%) | 12/15 (80.0%) |
| Miosis | 2/5 (40.0%) | 5/29 (17.2%) | 1/11 (9.1%) | 0/8 (0%) | 4/10 (40.0%) |
| Parkinsonism | |||||
| Tremor | 1/5 (20.0%) | 19/40 (47.5%) | 11/15 (73.3%) | 5/9 (55.6%) | 3/16 (18.8%) |
| Rigidity | 1/5 (20.0%) | 12/40 (30.0%) | 1/15 (6.7%) | 9/9 (100.0%) | 2/16 (12.5%) |
| Bradykinesia | 1/5 (20.0%) | 12/40 (30.0%) | 1/15 (6.7%) | 9/9 (100.0%) | 2/16 (12.5%) |
| Ataxia | 0/5 (0%) | 7/40 (17.5%) | 2/15 (13.3%) | 4/9 (44.4%) | 1/16 (6.3%) |
| Neurological attack | |||||
| Disturbance of consciousness | 4/5 (80.0%) | 7/40 (17.5%) | 3/15 (20.0%) | 1/9 (11.1%) | 3/16 (18.8%) |
| Stroke-like episode | 4/5 (80.0%) | 4/40 (10.0%) | 1/15 (6.7%) | 2/9 (22.2%) | 1/16 (6.3%) |
| Encephalitic episode | 3/5 (60.0%) | 2/40 (5.0%) | 1/15 (6.7%) | 0/9 (0%) | 1/16 (6.3%) |
| Brain MRI | |||||
| Severe leukoencephalopathy | 5/5 (100.0%) | 7/20 (35.0%) | 1/7 (14.3%) | 2/6 (33.3%) | 4/7 (57.1%) |
| DWI U-fiber high signal | 5/5 (100.0%) | 6/16 (37.5%) | 1/3 (33.3%) | 1/6 (16.7%) | 4/7 (57.1%) |
| Cognitive function test | |||||
| MMSE (<education matched average) | 0/2 (0%) | 4/21 (19.0%) | 0/7 (0%) | 0/7 (0%) | 4/7 (57.1%) |
| MoCA (<education matched average) | 1/2 (50.0%) | 9/16 (56.3%) | 3/7 (42.9%) | 4/5 (80.0%) | 2/4 (50.0%) |
| Nerve conduction | |||||
| MCV slowing | 3/3 (100.0%) | 19/22 (86.4%) | 8/9 (88.9%) | 6/6 (100%) | 5/7 (71.4%) |
| CMAP reduction | 1/3 (33.3%) | 14/22 (63.6%) | 7/9 (77.8%) | 2/6 (33.3%) | 5/7 (71.4%) |
| SCV slowing | 3/3 (100.0%) | 15/22 (68.2%) | 7/9 (77.8%) | 3/6 (50.0%) | 5/7 (71.4%) |
| SNAP reduction | 1/3 (33.3%) | 13/22 (59.1%) | 6/9 (66.7%) | 2/6 (33.3%) | 5/7 (71.4%) |
| Skin biopsy | 5 | 14 | 3 | 5 | 6 |
| Average no. of GGC repeats (range) | 105 (86–133) | 188 (66–517) | 272 (118–517) | 83 (66–102) | 129 (91–268) |