Features of the clinical, neuroimaging, and genetic characteristics of cases of infantile onset Alexander disease associated with mild clinical phenotype
| Mutation | Sex | Age Presentation | Age Follow-up | Macrocephaly | Seizures | Spasticity | Bulbar signs | Cognitive impairment | MRI | Reference | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1* | F | 7 m | 19 y | + | + | + | – | + | T | 6 | ||
| R79C 235 c → t | 2* | M | 3 m | 14 y | 17 | |||||||
| 3* | M | 11 m | 7 y | |||||||||
| 4† | 0 m | 7.5 y | – | + | –→ + | – | –→ + | T | ||||
| R79H 250 g → a | 5† | 6 m | 20 y | – | + | –→ + | – | –→ + | T | 15 | ||
| 6† | 6 m | 4.7 y | – | + | – | – | – | T | ||||
| 7† | F | 12 m | 8 y | 17 | ||||||||
| 8* | M | Asymptomatic at 4 y | – | – | – | – | – | T | 14 | |||
| R88C 276 c → t | 9* | M | Asymptomatic at 3 y | + | – | – | – | – | T | 18 | ||
| 10* | 6 m | 3.5 y | – | – | – | – | – | T | 15 | |||
| L90P 283 c → t | 11†§ | F | 5 m | 5.9 y | – | + | –→ + | – | –→ + | T | 16 | |
| R239C 716 c → t | 12† | M | 8 m | 8 y | + | + | – | + | + | T | ||
| 13¶ | 18 m | 8 y | – | + | –→ + | – | –→ + | T | 15 | |||
| A253G 758 g → t | 14¶§ | M | <12 m | 8 y | – | – | – | + | – | A | 19 | |
| 15 ¶§ | M | 1 m | – | – | – | – | – | A | 6 | |||
| L331P 1006 c → t | 16¶§ | M | Asymptomatic | + | – | – | – | – | T | 20 | ||
| 17¶§ | F | Asymptomatic at 7 y | – | – | – | – | – | A | ||||
| A358V 1087 c → t | 18† | F | 3 m | 5 y | + | + | – | – | – | T | Present | |
| R416W 1260 c → t | 19* | M | Asymptomatic at 11 y | – | – | – | – | – | T | 14 | ||
* Note:— indicates previously proven pathogenic mutation;
† , absence of the mutation in both parents;
¶ , absence of the mutation in one parent;
§ , absence of the mutation in healthy control subjects; m, months; y, years; †, presence; –, absence; T, typical; A, atypical.