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Table 2: 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.