| Disease ID | Source | Name | Description |
| 169500 | OMIM | Leukodystrophy, demyelinating, autosomal dominant, adult-onset (ADLD) | A slowly progressive and fatal demyelinating leukodystrophy, presenting in the fourth or fifth decade of life. Clinically characterized by early autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS. It differs from multiple sclerosis and other demyelinating disorders in that neuropathology shows preservation of oligodendroglia in the presence of subtotal demyelination and lack of astrogliosis. The disease is caused by variants affecting the gene represented in this entry. |