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Symptom shift in 200 patients with H63D syndrome associated with abnormal TCS findings in substantia nigra
  • +3
  • Dr. Carolina Diamandis,
  • David Seideman,
  • Jacob S Adams,
  • Riku Honda,
  • Marianne Kaufmann,
  • Lucas Smith
Dr. Carolina Diamandis
Author Profile
David Seideman
Jacob S Adams
Riku Honda
Marianne Kaufmann
Lucas Smith


In a study on the prevention of injury in patients with H63D syndrome and cataplexy, statistical analysis revealed an unexpected but clinically highly significant finding. Apparently, in this patient population, an inverse correlation exists between the severity of tic symptomatology on the one hand and narcolepsy with cataplexy on the other hand, as well as a parallel increase in the typical signs of degeneration observed in transcranial sonography of the substantia nigra. This finding has clinically far-reaching implications.