Table 1.
Clinical characteristics of the UTS Type-II and other cases.
| Variables | Case IV-16 | Case IV-22 | Case IV-23 | Case IV-24 | Case IV-30 | Case IV-31 |
|---|---|---|---|---|---|---|
| Sex | Male | Male | Female | Male | Male | Male |
| Age | 28 years | 25 years | 20 years | 18 years | 5 years | 3 years |
| Gait | QL | QL | QL | BL | Facultative | No |
| Ataxia | Yes | Yes | Yes | No | No | Bedridden |
| Standing | Normal | Normal | Normal | Normal | Normal | No |
| BL | Ataxic | No | Ataxic | Normal | Normal | No |
| Muscle tone | Normal (5/5) | Normal (5/5) | Normal (5/5) | Normal (5/5) | Normal (5/5) | Hypotonia (0/5) |
| Early hypotonia | Yes | Yes | Yes | No | No | Yes |
| DTR: upp. ext. | 3+++ (hyper) | 2++ (normal) | 2++ (normal) | 2++ (normal) | Unknown | 0 (Absent) |
| DTR: low. ext. | 3+++ (hyper) | 3+++ (hyper) | 3+++ (hyper) | 3+++ (hyper) | Unknown | 0 (Absent) |
| Cerebellar hypopl asia | Yes | Yes | Yes | Mild | No | Unknown |
| Head size | Normal | Normal | Normal | Normal | Normal | Normal |
| Speech | Dysarthric | No | No | Normal | Delayed | No |
| Mental retardation | Mild | Severe | Severe | Mild | No | Unknown |
| Babinski | Absent | Present | Absent | Absent | Unknown | Absent |
| Nystagmus | Horizontal | No | Upward | Absent | Unknown | Horizontal |
| Tremor | Mild | No | No | Absent | Unknown | No |
| MMSE | 22/30 | 3/30 | 2/30 | 21/30 | No reply | No reply |
Upp. ext., upper extremity; low. ext., lower extremity; BL, bipedal locomotion.