TY - JOUR
T1 - Parkinson's disease in Gaucher disease patients
T2 - what's changing in the counseling and management of patients and their relatives?
AU - Di Rocco, Maja
AU - Di Fonzo, Alessio
AU - Barbato, Antonio
AU - Cappellini, Maria Domenica
AU - Carubbi, Francesca
AU - Giona, Fiorina
AU - Giuffrida, Gaetano
AU - Linari, Silvia
AU - Pession, Andrea
AU - Quarta, Antonella
AU - Scarpa, Maurizio
AU - Spada, Marco
AU - Strisciuglio, Pietro
AU - Andria, Generoso
PY - 2020/9/23
Y1 - 2020/9/23
N2 - 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.
AB - 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.
KW - Counseling
KW - Gaucher disease
KW - Management
KW - Risk of Parkinson’s disease
UR - http://www.scopus.com/inward/record.url?scp=85091552183&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85091552183&partnerID=8YFLogxK
U2 - 10.1186/s13023-020-01529-y
DO - 10.1186/s13023-020-01529-y
M3 - Article
C2 - 32967694
AN - SCOPUS:85091552183
VL - 15
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
SN - 1750-1172
IS - 1
M1 - 262
ER -