Skip to main content

Table 3 Ancillary testing of individuals with ATP8A2 mutations

From: Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

Patient

Nerve conduction

MRI brain (age of study, years)

1

Normal

Normal; hypoplastic optic nerves (2 yrs., 3 yrs)

2

N/A

Normal (1.5 yrs)

3

Normal

Mild delay in myelination for age; subcortical white matter volume loss, thin corpus callosum (8 mos, 1.3 yrs)

4

Normal

Normal

5

Normal

Normal; hypoplastic optic nerves

6

N/A

N/A

7

Normal

Normal

8

Normal

N/A (CT brain = mild cerebral atrophy)

9

Normal

Hyperintense signal (T2FLAIR) in optic radiations (12 yo)

10

Normal

Delayed myelination for age, mild cerebral atrophy, thin corpus callosum (6 yrs)

11

N/A

Delayed myelination in temporal lobes (1.8 yrs)