Table 1.
Clinical features of study participants (n = 6)
| F 1 | F 2 | M 1 | M 2 | M 3 | M 4 | |
|---|---|---|---|---|---|---|
| Mutation | c.344C>T | c.1909A>C | c.344C>T | c.1909A>C | c.1399C>T | c.1848G>A |
| T115M | S637R | T115M | S637R | R467X | T616X | |
| Participant information | ||||||
| Place of residence | Hokkaido island | The main island | Hokkaido island | The main island | Shikoku island | Shanghai in China |
| Age at onset (years) | 58 | 60 | 46 | Unknown | 15 | 13 |
| Age at detection of calcification (years) | 60 | 60 | 50 | 22 | 23 | 25 |
| Age at diagnosis of IBGC3 (years) | 69 | 64 | 50 | 22 | 26 | 26 |
| Onset symptom | Dysarthria | Dysarthria | Easy to anger | – | PKC | PKC |
| Interview | ||||||
| Age at interview (years) | 72 | 66 | 50 | 22 | 26 | 28 |
| Symptoms at interview | Forgetful, headache | Speech, gait, forgetful, headache | Headache, cramp, forgetful | Unstable | Cramp | Headache, unstable |
| Family information | ||||||
| Other patients in the family | Her son and five relatives | Her son | His mother and five relatives | His mother | His mother | Three relatives |
| References | II-1 in F3 Case 3, Yamada et al. (2014) | III-1 in F1 Case 1, Yamada et al. (2014) | II-1 in F3, Yamada et al. (2014) | II-2 in F1, Yamada et al. (2014) | Case 5, Yamada et al. (2014) | Figure 1 |