Late‐onset Krabbe disease presenting as spastic paraplegia – implications of GCase and CTSB/D

Abstract Objective Krabbe disease (KD) is a multisystem neurodegenerative disorder with severe disability and premature death, mostly with an infancy/childhood onset. In rare cases of late‐onset phenotypes, symptoms are often milder and difficult to diagnose. We here present a translational approach...

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Bibliographic Details

Published in:	Annals of Clinical and Translational Neurology
Main Authors:	Rebecca Mächtel, Jan‐Philipp Dobert, Ute Hehr, Alexander Weiss, Matthias Kettwig, Lucia Laugwitz, Samuel Groeschel, Manuel Schmidt, Philipp Arnold, Martin Regensburger, Friederike Zunke
Format:	Article
Language:	English
Published:	Wiley 2024-07-01
Subjects:	cathepsin B cathepsin D enzymatic activity Krabbe disease late‐onset β‐glucocerebrosidase
Online Access:	https://doi.org/10.1002/acn3.52078