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Diagnostic Tips from a Video Series and Literature Review of Patients with Late-Onset Tay-Sachs Disease.

Giulietta Maria RiboldiHeather Lau
Published in: Tremor and other hyperkinetic movements (New York, N.Y.) (2022)
Late-Onset Tay-Sachs (LOTS) disease, a severe progressive neurological condition, has multifaced presentations causing diagnostic delays that can significantly affect research outcomes now that clinical trials are available. We highlight useful diagnostic clues from our cohort (including the first video representation of a LOTS cohort) and comprehensive literature review.
Keyphrases
  • late onset
  • early onset
  • clinical trial
  • case report
  • type diabetes
  • brain injury
  • open label
  • drug induced
  • phase ii