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Table 2 The information of asymptomatic carriers with MRI abnormalities

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

  1. aNo age at onset is reported for Patients 4 and 10; evaluation for leukodystrophy was initiated only after incidental findings of white matter changes were discovered by MRI performed as part of examination for other conditions