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.

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

Palermo G;Bonuccelli U;Siciliano G;Mancuso M;Ceravolo R
2019-01-01

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.
2019
Palermo, G; Logerfo, A; Nicoletti, V; Bonuccelli, U; Siciliano, G; Mancuso, M; Ceravolo, R
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11568/1238211
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