New Treatments for Movement Disorders. Part 8

Supranuclear gaze palsy. We are talking about PSP. Supranuclear gaze palsy. Some associations. If the supranuclear gaze palsy happens, what is a supranuclear gaze palsy? Look at my hand, follow my hand down. Follow my hand up. So it is a palsy but why is it supranuclear? Because if I roll the head … up and down. Implication? The lesion must be above the level of the nucleus. It is not a probable paresis. That’s why it is supranuclear. Now we’ve defined that term so; the supranuclear gaze palsy happens in a kid, six-year-old. There is no differential diagnosis. Well, there always is but there’s one entity that leaps to mind with a little bit of parkinsonism. Niemann-Pick type C. Next case. Middle age, about 40, Wilson’s. Next case. Look for some facial myokymia. In old age, PSP. Next case. Quick, quick associations. Niemann-Pick, major pathologic finding; sea-blue histiocytes. Get a picture of it, look at it. That kind of thing. Quick, associations. I don’t know everything about Niemann-Pick. I just know that about supranuclear gaze palsy. For movement disorders, that’s almost enough. But especially for testing, I think you need to have associations. Neurofibromatosis type II, major association; it’s chromosome 22, it’s both acoustics, it’s optic nerve, that’s two. All those kinds of things you want to keep in your head and click off. Because you are sitting there thinking neurofibromatosis. That has something to do with the café-au-lait spots, doesn’t it? How big a café-au-lait spot? I don’t remember. I’ve been there. Wilson’s disease; autosomal recessive. When in doubt, they are always autosomal recessive, right? Associated with chromosome 13. Other little lists to generate, chromosomal associations, they kill us with this. Have some in your kit bag. You don’t have to know all of them, but you need to know some of them. Why? Because they show up in matching questions. That’s where they show up. Of course you all know about the enzymes and the kiddie stuff. Make sure you generate a list on that. Not only the enzymes, but what’s deficient because of the enzyme deficiency. Don’t get confused. You have to have two columns in your list.

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