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

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