Table 1 Demographic and clinical features of the index family carrying the heterozygous STUB1 mutation
III:1 | III:2 | II:1 | II:2 | II:3 | II:4 | II:5 | II:6 | II:7 | II:8 | I:1 | I:2 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Current age (year) | 30 | 28 | 66 | 65 | 63 | 62 | 55 | 59 | 57 | 55 | 60 | 70 |
Onset age (year) | 23 | 24 | N.A | N.A | 38 | N.A | 30 | N.A | N.A | N.A | 30 | N.A |
Age at death (year) | N.A | N.A | N.A | N.A | 64 | N.A | 55 | N.A | N.A | N.A | 60 | N.A |
Sex | M | M | F | M | F | F | F | F | M | M | M | F |
Cerebellar dysfunction related symptoms | ||||||||||||
Ataxia | + + + | + | − | − | + + + | − | + + + | − | − | − | + + + | N.A |
Dysarthria | + + | + | − | − | + + | − | + + | − | − | − | + + + | N.A |
Dysphagia | + | − | − | − | + + | − | + + | − | − | − | + + | N.A |
Hands dysmetria | + + | + + | − | − | + + | − | + | − | − | − | + + | N.A |
Cognitive-affective symptoms | ||||||||||||
MMSE | 28 | 28 | 30 | 30 | 24 | 29 | N.A | 30 | 30 | 30 | N.A | N.A |
Depression | + | + | − | − | + + | − | + + | − | − | − | + + | − |
Anxiety | − | − | − | − | − | − | − | − | − | − | − | |
Associated symptoms | ||||||||||||
Polyneuropathy | − | − | − | − | − | − | − | − | − | − | N.A | N.A |
Activities of daily living | ||||||||||||
Waling disability | Crutches | Wo aid | Well | N/A | WC | Well | WC | Well | Well | Well | WC | Well |
Dependency | P | I | I | I | T | I | T | I | I | I | T | I |