AAN 2026 | Advancing research and care in adult-onset genetic leukoencephalopathies

To be able to develop a disease-modifying therapy, we need to understand the natural course of the condition. And it takes quite a lot of time and resources to do, but it is worth the while. If we’re not clear on the natural history of the disease, then we won’t be able to develop a therapy that will modify the disease course in a meaningful way. And so it will be important to aggregate these patients and evaluate them prospectively to ultimately determine if the disease-modifying therapy benefit will outweigh the risk. Various groups across the country have noted that misdiagnosis of multiple sclerosis can be about 30%, which is quite high. And so I think expanded awareness on this possibility is important. And understandably, there may be some hesitation with genetic testing, especially if the resources are not in your environment. But the field is kind of moving towards, you know, if you’re on the fence of getting genetic testing, go ahead and do it, but you definitely need a genetic counselor and you need to be able to kind of accept that maybe even in 50% of these conditions that it might still be negative and you may get variants of uncertain significance, which is challenging to interpret. There might be some clinical significance, but the testing may not be diagnostic. So there are nuances to the discussion and the genetic testing is only as good as we are, so it’s important to maintain a very broad differential and to rigorously exclude acquired neuroinflammatory conditions.

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