Table 1.
Disorders with exclusive adulthood onset
| S. No. | Condition | MIM# | Gene |
|---|---|---|---|
| 1 | Hereditary diffuse leukoencephalopathy with spheroids | 221820 | CSF1R |
| 2 | Autosomal dominant adult onset demyelinating leukodystrophy | 169500 | LMNB1 |
| 3 | Adult polyglucosan body disease | 263570 | GBE1 |
| 4 | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | 125310 | NOTCH3 |
| 5 | Cerebral autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy | 600142 | HTRA1 |
| 6 | Cathepsin A-related arteriopathy with strokes and leukoencephalopathy | - | CTSA |
| 7 | Cerebral leukodystrophy with retinal vasculopathy | 192315 | TREX1 |
| 8 | Small vessel disease with ocular abnormalities | 175180 | COL4A1 |
| 9 | Gordon Holmes syndrome | 212840 | RNF216 |
| 10 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | 221770 | TYROBP |
| 11 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 | 618193 | TREM2 |