Expanding Glucocerebrosidase Involvement in Neurodegeneration: D419H Mutation Causing Dementia with Lewy Bodies*Corresponding Author: Ceravolo R, Neurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Building 13, Santa Chiara Hospital, Via Roma 67, 56122, Pisa, Tuscany, Italy, Tel: +39050992443, Fax: +39050554808, Email: [email protected]
Received Date: Oct 07, 2019 / Accepted Date: Oct 28, 2019 / Published Date: Nov 04, 2019
Citation: Palermo G, Logerfo A, Nicoletti V, Bonuccelli U, Siciliano G, et al. (2019) Expanding Glucocerebrosidase Involvement in Neurodegeneration: D419H Mutation Causing Dementia with Lewy Bodies. J Mol Genet Med 13: 437.
Copyright: © 2019 Palermo G, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Mutations in the glucocerebrosidase gene (GBA) are a common genetic risk factor for Dementia with Lewy Bodies (DLB). Hereby, we describe an Italian family with three DLB relatives harboring the D419H GBA variant. The pedigree analysis indicates a dominant inheritance pattern, suggesting that heterozygous GBA mutations may differently affect the risk of Parkinson-dementia syndromes. This should be taken into account for genetic counseling in relatives of patients with GBA associated Parkinson’s Disease/DLB.