PSP 2

Neuroid-acanthocytosis. Autosomal recessive. I like this disorder because it embraces a lot of different things. It embraces a little bit of a picture. These are the things, the acanthocytes, on a saline preparation in the blood. Just a smear with a little saline, they have acanthocyte formation. They have a little elaboration of CK but no myopathy to speak of. Weird movement disorders. In the differential diagnosis of a hyperkinetic movement disorder, early onset, no explanation, rise in CPK, you don’t know why, but neuroid-acanthocytosis. Some problem with, I don’t know, lipid layer of membranes. We don’t understand but the upshot is, in the differential diagnosis of hyperkinetic movement disorders that you have to work up, you have to look at Huntington’s disease. You have to look at Wilson’s disease, you have to look for a neuroid-acanthocytosis. You have to look to structural lesions giving rise to myoclonic lesions and all the rest. There is a linkage, X-linked, in certain patients, small numbers.
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I mentioned the PKC and the PNKC, the paroxysmal kinesigenic choreoathetosis and the paroxysmal non-kinesigenic choreoathetosis because when I was reviewing the tests over recent years, I saw it on a matching thing and I said, “Those bastards. Why would they take a general neurologist and ask him about PKC?” The difference is, PKC is weird. It begins with this kind of strange, funny feeling and then they begin a movement and there is something weird. And you say, “Oh, it must be functional” because you know what? It looks functional. They have this weird premonition, a little bit of movement starts up and boom, they are into some kind of brief paroxysmal choreoathetoid movement and here’s the thing, it is anticonvulsive responsive. It is exquisitely responsive to Tegretol. It is not associated with _ abnormalities on EEG. It is a movement disorder. There is a variant in which movement is not necessary to induce the choreoathetotic transient movement disorder and strangely that’s responsive to benzodiazepine. Curious. And it’s usually on one side and it’s usually heralded by some kind of weird sensory thing. The way it comes to your attention as general neurologists is you are being asked to comment on some kind of .. like a focal epilepsy or something and you are freaking out about the possibility of it being some kind of met, similar to some level of the cortex giving rise to something like a Jacksonian-March thing. The problem being that it is not a nice Jacksonian-March. It’s weird, it’s irregular. It’s got weird features to it. So maybe not so unreasonable that they talk about PKC and PNKC. But the difference that you will see on the matching tests is that one is anticonvulsive responsive, that’s PKC, and benzodiazepine responsive in non-kinesigenic choreoathetosis. It’s also been described that the non-kinesigenic form has dystonic predominant features, but believe me, it’s complicated. They look weird, is what I’m getting at, as most movement disorders do.

I’m going to pass over the hypnagogic dyskinesia. That’s the sleep disorder stuff. Sleep disorder people like to talk about that. The things that happen as you are drifting off to sleep.

I’m going to go to some of these weird ones. You can read about these things on your own. I don’t think these are important. These start to be, though. Some associations: here’s the story, a real story. Crazy woman. Justifiably crazy. Many doctors have commented, “She’s crazy.” So what do they do? Of course, refer them to me. Why not? This is all the crazy people. She sits down perfectly well. “Get up for me again, ma’am.” Her family members came with her, including the kids. The whole family, a whole crew. One of the kids said, “I like gramma a lot. I love her when she comes over to the house because she is fun to look at. But on top of that, it’s really cool because if you lay her down, because this happens when she lies down too, you can use the small of her back for like a tunnel for cars. It’s really cool.” Then when you take off her shirt, she’s got these perispinal muscles that look like Schwartzenegger. Huge perispinals. You could take your fingers and put them in the groove between the perispinals … cool. Up to your knuckles in perispinals. So she’s got perispinal muscle hypertrophy. She’s got this weird gait problem and she’s got like a tunnel for a back that her kids can use for their toys, she’s got rip-roaring diabetes mellitus and she is like a pinto. She’s got these blotches … she’s like a Michael Jackson. She’s got these blotches of café-au-lait white spots, vitiligo. I’ve just described for you one of the big things that they are talking about in autoimmune neurologic movement disorder, stiff-person syndrome. What’s the autoimmunity? The diabetes comes from autoimmune attack on beta islet cells, the stiffness comes from autoimmune attack, we think, on spinal neurons. Vitiligo has been well-identified as an autoimmune process. There is an association also with myasthenia gravis. The antibody in question is probably directed against glutamic acid decarboxylase. The enzyme that produces GABA. It’s a neat disease. They are working on some genetics now. I’ve only seen three cases but that woman stays in my mind for a long time.

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