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