Parkinson's disease in Gaucher disease patients: what's changing in the counseling and management of patients and their relatives?

Maja Di Rocco, Alessio Di Fonzo, Antonio Barbato, Maria Domenica Cappellini, Francesca Carubbi, Fiorina Giona, Gaetano Giuffrida, Silvia Linari, Andrea Pession, Antonella Quarta, Maurizio Scarpa, Marco Spada, Pietro Strisciuglio, Generoso Andria

Research output: Contribution to journalArticlepeer-review

Abstract

BACKGROUND: How to address the counseling of lifetime risk of developing Parkinson's disease in patients with Gaucher disease and their family members carrying a single variant of the GBA1 gene is not yet clearly defined. In addition, there is no set way of managing Gaucher disease patients, taking into account the possibility that they may show features of Parkinson's disease. METHODS: Starting from an overview on what has recently changed in our knowledge on this issue and grouping the experiences of healthcare providers of Gaucher disease patients, we outline a path of counseling and management of Parkinson's disease risk in Gaucher disease patients and their relatives. CONCLUSION: The approach proposed here will help healthcare providers to communicate Parkinson's disease risk to their patients and will reduce the possibility of patients receiving inaccurate information from inadequate sources. Furthermore, this resource will help to empower healthcare providers to identify early signs and/or symptoms of Parkinson's disease and decide when to refer these patients to the neurologist for appropriate specific therapy and follow-up.

Original languageEnglish
Article number262
JournalOrphanet Journal of Rare Diseases
Volume15
Issue number1
DOIs
Publication statusPublished - Sep 23 2020

Keywords

  • Counseling
  • Gaucher disease
  • Management
  • Risk of Parkinson’s disease

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pharmacology (medical)

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