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April 26, 2023
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VIDEO: Genetic predisposition suggested in stiff-person syndrome

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BOSTON — An evaluation of the Utah Population Health Database showed familial clustering of stiff-person syndrome along with other autoimmune diseases, Justin Abbatemarco, MD, said at the American Academy of Neurology annual meeting.

“Stiff-person syndrome is a rare autoimmune syndrome,” Abbatemarco, a neurologist at the Cleveland Clinic Mellen Center, said in this Healio video. “It was described in the 1950s, but there is still so much unknown about this disease.”

Other autoimmune diseases, such as type 1 diabetes, vitiligo and pernicious anemia, have been linked to stiff-person syndrome, he noted.

“Using the Utah Population Health Database, we looked at these large pedigrees, generations back, to see, is there a clustering with stiff-person disease or with some other autoimmune diseases in these pedigrees?” Abbatemarco said. “And what we were able to see was that there was some increased familial clustering of both of those components.”

This knowledge, he said, provides hope for targeting immunological medications for this group in the future.