From: Atypical MRI features in familial adult onset Alexander disease: case report
Patient Reference | Gender | Age (years) | MRI scan | Nucleotide change | Aminoacid substitution |
---|---|---|---|---|---|
Patient 1 [18] | Male | 62 | Mild cervicomedullary atrophy | c.232G > A | p.D78N |
Patient 2 [6] | Male | 32 | Atrophy of medulla oblongata and spinal cord, Periventricular rim | c. 274 T > G | p.V87G |
Patient 3 [19] | Male | 33 | Atrophy of medulla oblongata and spinal cord, white matter lesion, periventricular rim | c. 274 T > G | p.V87G |
Patient 4 [20] | Male | a<4 | Frontal white matter abnormality | c.276C > T | p.R88C |
Patient 5 [2] | Male | 30 | Supratentorial periventricular white matter, atrophy of medulla oblongata and cervical cord | c.613G > A | p.E205K |
Patient 6 [21] | Male | 32 | Periventricular rim, atrophy of medulla | c.988C > G | p.R330G |
c.994G > A | p.E332K | ||||
Patient 7 [22] | Female | 34 | Mild abnormal intensities in the deep frontal white matter and caudates | c.1006 T > C | p.L331P |
Patient 8 [23] | Male | 72 | Atrophy of the upper cervical cord medullaoblongata and cerebellar | c.1157A > G | p.N386S |
Patient 9 [8] | Male | 52 | Supratentorial periventricular white matter, atrophy of medulla oblongata and cervical cord | c. 1193C > A | p.S398Y |
Patient 10 [20] | Male | a<11 | White matter of the cerebellum, medulla, pons changes | c.1260C > T | p.R416W |
c.154C > T | p.P47L |