Table 1

Clinical summary and mutations

FamilyPatientAge of onsetAlive atAge at deathDiagnosis byMutationaa change
N1: previously reported by Kvittingen et al.16 S9: previously reported by Hagenfeldt et al.1 U-NAA: urine N-acetylaspartic acid.
*Identification of the mutations was based on the genotypes of their parents (N5 and N6) or affected brother (N2).
1N13 months25 yearsBrain biopsy340G→TD114Y
2N2*1 week7 monthsBrain biopsy340G→TD114Y
N34 months8 monthsBrain biopsy340G→TD114Y
3N4Birth6.5 monthsU-NAA340G→TD114Y
4N5*3–4 months3.5 monthsBrain biopsy340G→TD114Y
N6*8–10 weeks6.5 yearsBrain biopsy340G→TD114Y
5N73 months21 yearsU-NAA746A→TD249V
6N83 months17.4 yearsU-NAA245insATruncation
7S93 months15 yearsU-NAA746A→TD249V