Miglustat as Disease-Modifying Therapy in a Patient with SCARB2-Related Action Myoclonus Renal Failure

Fabiana Colucci; Andrea Dardis; Eleonora Pavan; Maurizio Scarpa; Andrea Gozzi; Pietro Antenucci; Marianna Farnè; Marcella Neri; Alessandra Ferlini; Valeria Tugnoli; Annalisa Sechi; Mariachiara Sensi

doi:10.1002/mdc3.14273

Miglustat as Disease-Modifying Therapy in a Patient with SCARB2-Related Action Myoclonus Renal Failure

Mov Disord Clin Pract. 2024 Nov 8. doi: 10.1002/mdc3.14273. Online ahead of print.

Authors

Fabiana Colucci^{1

2}, Andrea Dardis³, Eleonora Pavan³, Maurizio Scarpa³, Andrea Gozzi^{1

4}, Pietro Antenucci^{1

4}, Marianna Farnè⁵, Marcella Neri⁵, Alessandra Ferlini⁵, Valeria Tugnoli⁴, Annalisa Sechi³, Mariachiara Sensi⁴

Affiliations

¹ Department of Neuroscience and Rehabilitation, University of Ferrara, Ferrara, Italy.
² Parkinson and Movement Disorders Unit, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
³ Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy.
⁴ Department of Neuroscience and Rehabilitation, Azienda Ospedaliero-Universitaria S. Anna, Ferrara, Italy.
⁵ Department of Medical Sciences, Unit of Medical Genetics, Università degli Studi di Ferrara, Ferrara, Italy.

PMID: 39512127
DOI: 10.1002/mdc3.14273

No abstract available

Keywords: Lyso‐Gb1; action myoclonus renal failure (AMRF); disease‐modifying therapy; lysosomal integral membrane protein type 2 (LIMP‐2); miglustat; scavenger receptor class B member 2 gene (SCARB2).

Publication types

Case Reports