Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders.

Julien H ParkTatiana Bremova-ErtlMarion BrandsTomas FoltanMatthias GautschiPaul GissenAndreas HahnSimon JonesLaila Arash-KapsMiriam KolnikovaMarc PattersonSusan PerlmanUma RamaswamiStella ReichmannováMarianne RohrbachSusanne A SchneiderAasef ShaikhSiyamini SivananthanMatthis SynofzikMark WalterfarngPierre WibawaKyriakos MartakisMario Manto

Published in: Journal of neurology (2024)

Qualitative and quantitative data demonstrate the reliability and responsiveness of the SARA score as a valid measure of neurological signs and symptoms in LSDs with CNS involvement, such as NPC and GM2 Gangliosidoses. A 1-point change represents a clinically meaningful transition reflecting the gain or loss of complex function.

Keyphrases

systematic review
high resolution
blood brain barrier
early onset
big data
depressive symptoms
mass spectrometry
brain injury
subarachnoid hemorrhage