Table 1.
Shared and distinguishing features of AGS patients with mutations in different genes
| Shared features | Distinguishing features | Gene |
|---|---|---|
| Brain calcifications Leukoencephalopathy Cerebral atrophy White matter rarefaction Severe neurological dysfunction Hypothyroidism Chilblainsa Glaucomaa Demyelinating peripheral neuropathy |
Bilateral striatal necrosis, striatal calcification, severe dystonia | ADAR |
|
|
||
| Neonatal onset of the diseaseb, deep white matter cystsc, infantile onset hypertrophic cardiomyopathyb | TREX1 | |
|
|
||
| Vascular lesions, intracerebral large vessel disease, mouth ulcers, arthropathy | SAMHD1 | |
|
|
||
| Disease onset after 1 year of life, period of normal development prior to disease onset, systemic lupus erythematosus | ADAR, IFIH1 | |
|
|
||
| Pure spastic paraparesis, normal neuroimaging or nonspecific changes in white matter, preserved intellect | RNASEH2B, SAMHD1, IFIH1, ADAR | |
|
|
||
| Preserved limited motor or communication function | RNASEH2B, SAMHD1, ADAR, IFIH1 | |
|
|
||
| Clinically asymptomatic in late adulthood | IFIH1 | |
|
| ||
| Other rare features found in patients with AGS Gastrointestinal inflammatory disease, central diabetes insipidus, diabetes mellitus, hyperparathyroidism, growth hormone deficiency, adrenal insufficiency, antiphospholipid syndrome, panniculitis | ||
a
Especially SAMHD1.
b
Other gene mutations are also possible.
c
Can also be present in patients with other mutations, probably a consequence of a prenatal disease onset.