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Expanding Glucocerebrosidase Involvement in Neurodegeneration: D419H Mutation Causing Dementia with Lewy Bodies | OMICS International | Abstract
ISSN: 1747-0862

Journal of Molecular and Genetic Medicine
Open Access

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Expanding Glucocerebrosidase Involvement in Neurodegeneration: D419H Mutation Causing Dementia with Lewy Bodies

Palermo G, Logerfo A, Nicoletti V, Bonuccelli U, Siciliano G, Mancuso M and Ceravolo R*
Neurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Italy
*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.

 
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Abstract

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.

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